Digital Commons Network^™

Assessing The Contribution Of Rare Variants To Complex Trait Heritability From Whole-Genome Sequence Data, Pierrick Wainschtein, Deepti Jain, Zhili Zheng, Topmed Anthropometry Working Group, Nhlbi Trans-Omics For Precision Medicine (Topmed) Consortium, L Adrienne Cupples, Aladdin H Shadyab, Barbara Mcknight, Benjamin M Shoemaker, Braxton D Mitchell, Bruce M Psaty, Charles Kooperberg, Ching-Ti Liu, Christine M Albert, Dan Roden, Daniel I Chasman, Dawood Darbar, Donald M Lloyd-Jones, Donna K Arnett, Elizabeth A Regan, Eric Boerwinkle, Jerome I Rotter, Jeffrey R O'Connell, Lisa R Yanek, Mariza De Andrade, Matthew A Allison, Merry-Lynn N Mcdonald, Mina K Chung, Myriam Fornage, Nathalie Chami, Nicholas L Smith, Patrick T Ellinor, Ramachandran S Vasan, Rasika A Mathias, Ruth J F Loos, Stephen S Rich, Steven A Lubitz, Susan R Heckbert, Susan Redline, Xiuqing Guo, Y -D Ida Chen, Cecelia A Laurie, Ryan D Hernandez, Stephen T Mcgarvey, Michael E Goddard, Cathy C Laurie, Kari E North, Leslie A Lange, Bruce S Weir, Loic Yengo, Jian Yang, Peter M Visscher

Faculty, Staff and Student Publications

Analyses of data from genome-wide association studies on unrelated individuals have shown that, for human traits and diseases, approximately one-third to two-thirds of heritability is captured by common SNPs. However, it is not known whether the remaining heritability is due to the imperfect tagging of causal variants by common SNPs, in particular whether the causal variants are rare, or whether it is overestimated due to bias in inference from pedigree data. Here we estimated heritability for height and body mass index (BMI) from whole-genome sequence data on 25,465 unrelated individuals of European ancestry. The estimated heritability was 0.68 (standard error …

Community-Clinic Linkages For Promoting Hiv Prevention: Organizational Networks For Prep Client Referrals And Collaborations, Rebecca L Mauldin, Tamara Al Rawwad, Muhammad Amith, Lisa M Kuhns, John A Schneider, Kayo Fujimoto

Faculty, Staff and Student Publications

Community-clinic linkages may help communities increase HIV pre-exposure prophylaxis (PrEP) uptake. Referrals from community-based organizations may be particularly important for linking Black men who have sex with men (MSM) to PrEP. This study describes PrEP referral and HIV/STI prevention networks among organizations that serve MSM in Houston, TX (N = 40), and Chicago, IL (N = 28), and compares network positions of organizations based on percentage of Black/African American clients. A majority of organizations conducted PrEP awareness/promotion activities, but fewer made PrEP referrals, with little overlap between the collaboration and referral networks. The networks tended to have a …

Type 2 Diabetes Partitioned Polygenic Scores Associate With Disease Outcomes In 454,193 Individuals Across 13 Cohorts, Daniel Dicorpo, Jessica Leclair, Joanne B Cole, Chloé Sarnowski, Fariba Ahmadizar, Lawrence F Bielak, Anneke Blokstra, Erwin P Bottinger, Layal Chaker, Yii-Der I Chen, Ye Chen, Paul S De Vries, Tariq Faquih, Mohsen Ghanbari, Valborg Gudmundsdottir, Xiuqing Guo, Natalie R Hasbani, Dorina Ibi, M Arfan Ikram, Maryam Kavousi, Hampton L Leonard, Aaron Leong, Josep M Mercader, Alanna C Morrison, Girish N Nadkarni, Mike A Nalls, Raymond Noordam, Michael Preuss, Jennifer A Smith, Stella Trompet, Petra Vissink, Jie Yao, Wei Zhao, Eric Boerwinkle, Mark O Goodarzi, Vilmundur Gudnason, J Wouter Jukema, Sharon L R Kardia, Ruth J F Loos, Ching-Ti Liu, Alisa K Manning, Dennis Mook-Kanamori, James S Pankow, H Susan J Picavet, Naveed Sattar, Eleanor M Simonsick, W M Monique Verschuren, Ko Willems Van Dijk, Jose C Florez, Jerome I Rotter, James B Meigs, Josée Dupuis, Miriam S Udler

Faculty, Staff and Student Publications

OBJECTIVE: Type 2 diabetes (T2D) has heterogeneous patient clinical characteristics and outcomes. In previous work, we investigated the genetic basis of this heterogeneity by clustering 94 T2D genetic loci using their associations with 47 diabetes-related traits and identified five clusters, termed β-cell, proinsulin, obesity, lipodystrophy, and liver/lipid. The relationship between these clusters and individual-level metabolic disease outcomes has not been assessed.

RESEARCH DESIGN AND METHODS: Here we constructed individual-level partitioned polygenic scores (pPS) for these five clusters in 12 studies from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium and the UK Biobank (n = 454,193) …

Cancer Incidence, Mortality, Years Of Life Lost, Years Lived With Disability, And Disability-Adjusted Life Years For 29 Cancer Groups From 2010 To 2019: A Systematic Analysis For The Global Burden Of Disease Study 2019, Jonathan M Kocarnik, Kelly Compton, Frances E Dean, Weijia Fu, Brian L Gaw, James D Harvey, Hannah Jacqueline Henrikson, Dan Lu, Alyssa Pennini, Rixing Xu, Emad Ababneh, Mohsen Abbasi-Kangevari, Hedayat Abbastabar, Sherief M Abd-Elsalam, Amir Abdoli, Aidin Abedi, Hassan Abidi, Hassan Abolhassani, Isaac Akinkunmi Adedeji, Qorinah Estiningtyas Sakilah Adnani, Shailesh M Advani, Muhammad Sohail Afzal, Mohammad Aghaali, Bright Opoku Ahinkorah, Sajjad Ahmad, Tauseef Ahmad, Ali Ahmadi, Sepideh Ahmadi, Tarik Ahmed Rashid, Yusra Ahmed Salih, Gizachew Taddesse Akalu, Addis Aklilu, Tayyaba Akram, Chisom Joyqueenet Akunna, Hanadi Al Hamad, Fares Alahdab, Ziyad Al-Aly, Saqib Ali, Yousef Alimohamadi, Vahid Alipour, Syed Mohamed Aljunid, Motasem Alkhayyat, Amir Almasi-Hashiani, Nihad A Almasri, Sadeq Ali Ali Al-Maweri, Sami Almustanyir, Nivaldo Alonso, Nelson Alvis-Guzman, Hubert Amu, Etsay Woldu Anbesu, Robert Ancuceanu, Fereshteh Ansari, Alireza Ansari-Moghaddam, Maxwell Hubert Antwi, Davood Anvari, Anayochukwu Edward Anyasodor, Muhammad Aqeel, Jalal Arabloo, Morteza Arab-Zozani, Olatunde Aremu, Hany Ariffin, Timur Aripov, Muhammad Arshad, Al Artaman, Judie Arulappan, Zatollah Asemi, Mohammad Asghari Jafarabadi, Tahira Ashraf, Prince Atorkey, Avinash Aujayeb, Marcel Ausloos, Atalel Fentahun Awedew, Beatriz Paulina Ayala Quintanilla, Temesgen Ayenew, Mohammed A Azab, Sina Azadnajafabad, Amirhossein Azari Jafari, Ghasem Azarian, Ahmed Y Azzam, Ashish D Badiye, Saeed Bahadory, Atif Amin Baig, Jennifer L Baker, Senthilkumar Balakrishnan, Maciej Banach, Till Winfried Bärnighausen, Francesco Barone-Adesi, Fabio Barra, Amadou Barrow, Masoud Behzadifar, Uzma Iqbal Belgaumi, Woldesellassie M Mequanint Bezabhe, Yihienew Mequanint Bezabih, Devidas S Bhagat, Akshaya Srikanth Bhagavathula, Nikha Bhardwaj, Pankaj Bhardwaj, Sonu Bhaskar, Krittika Bhattacharyya, Vijayalakshmi S Bhojaraja, Sadia Bibi, Ali Bijani, Antonio Biondi, Catherine Bisignano, Tone Bjørge, Archie Bleyer, Oleg Blyuss, Obasanjo Afolabi Bolarinwa, Srinivasa Rao Bolla, Dejana Braithwaite, Amanpreet Brar, Hermann Brenner, Maria Teresa Bustamante-Teixeira, Nadeem Shafique Butt, Zahid A Butt, Florentino Luciano Caetano Dos Santos, Yin Cao, Giulia Carreras, Ferrán Catalá-López, Francieli Cembranel, Ester Cerin, Achille Cernigliaro, Raja Chandra Chakinala, Soosanna Kumary Chattu, Vijay Kumar Chattu, Pankaj Chaturvedi, Odgerel Chimed-Ochir, Daniel Youngwhan Cho, Devasahayam J Christopher, Dinh-Toi Chu, Michael T Chung, Joao Conde, Sanda Cortés, Paolo Angelo Cortesi, Vera Marisa Costa, Amanda Ramos Cunha, Omid Dadras, Amare Belachew Dagnew, Saad M A Dahlawi, Xiaochen Dai, Lalit Dandona, Rakhi Dandona, Aso Mohammad Darwesh, José Das Neves, Fernando Pio De La Hoz, Asmamaw Bizuneh Demis, Edgar Denova-Gutiérrez, Deepak Dhamnetiya, Mandira Lamichhane Dhimal, Meghnath Dhimal, Mostafa Dianatinasab, Daniel Diaz, Shirin Djalalinia, Huyen Phuc Do, Saeid Doaei, Fariba Dorostkar, Francisco Winter Dos Santos Figueiredo, Tim Robert Driscoll, Hedyeh Ebrahimi, Sahar Eftekharzadeh, Maha El Tantawi, Hassan El-Abid, Iffat Elbarazi, Hala Rashad Elhabashy, Muhammed Elhadi, Shaimaa I El-Jaafary, Babak Eshrati, Sharareh Eskandarieh, Firooz Esmaeilzadeh, Arash Etemadi, Sayeh Ezzikouri, Mohammed Faisaluddin, Emerito Jose A Faraon, Jawad Fares, Farshad Farzadfar, Abdullah Hamid Feroze, Simone Ferrero, Lorenzo Ferro Desideri, Irina Filip, Florian Fischer, James L Fisher, Masoud Foroutan, Takeshi Fukumoto, Peter Andras Gaal, Mohamed M Gad, Muktar A Gadanya, Silvano Gallus, Mariana Gaspar Fonseca, Abera Getachew Obsa, Mansour Ghafourifard, Ahmad Ghashghaee, Nermin Ghith, Maryam Gholamalizadeh, Syed Amir Gilani, Themba G Ginindza, Abraham Tamirat T Gizaw, James C Glasbey, Mahaveer Golechha, Pouya Goleij, Ricardo Santiago Gomez, Sameer Vali Gopalani, Giuseppe Gorini, Houman Goudarzi, Giuseppe Grosso, Mohammed Ibrahim Mohialdeen Gubari, Maximiliano Ribeiro Guerra, Avirup Guha, D Sanjeeva Gunasekera, Bhawna Gupta, Veer Bala Gupta, Vivek Kumar Gupta, Reyna Alma Gutiérrez, Nima Hafezi-Nejad, Mohammad Rifat Haider, Arvin Haj-Mirzaian, Rabih Halwani, Randah R Hamadeh, Sajid Hameed, Samer Hamidi, Asif Hanif, Shafiul Haque, Netanja I Harlianto, Josep Maria Haro, Ahmed I Hasaballah, Soheil Hassanipour, Roderick J Hay, Simon I Hay, Khezar Hayat, Golnaz Heidari, Mohammad Heidari, Brenda Yuliana Herrera-Serna, Claudiu Herteliu, Kamal Hezam, Ramesh Holla, Md Mahbub Hossain, Mohammad Bellal Hossain Hossain, Mohammad-Salar Hosseini, Mostafa Hosseini, Mehdi Hosseinzadeh, Mihaela Hostiuc, Sorin Hostiuc, Mowafa Househ, Mohamed Hsairi, Junjie Huang, Fernando N Hugo, Rabia Hussain, Nawfal R Hussein, Bing-Fang Hwang, Ivo Iavicoli, Segun Emmanuel Ibitoye, Fidelia Ida, Kevin S Ikuta, Olayinka Stephen Ilesanmi, Irena M Ilic, Milena D Ilic, Lalu Muhammad Irham, Jessica Y Islam, Rakibul M Islam, Sheikh Mohammed Shariful Islam, Nahlah Elkudssiah Ismail, Gaetano Isola, Masao Iwagami, Louis Jacob, Vardhmaan Jain, Mihajlo B Jakovljevic, Tahereh Javaheri, Shubha Jayaram, Seyed Behzad Jazayeri, Ravi Prakash Jha, Jost B Jonas, Tamas Joo, Nitin Joseph, Farahnaz Joukar, Mikk Jürisson, Ali Kabir, Danial Kahrizi, Leila R Kalankesh, Rohollah Kalhor, Feroze Kaliyadan, Yogeshwar Kalkonde, Ashwin Kamath, Nawzad Kameran Al-Salihi, Himal Kandel, Neeti Kapoor, André Karch, Ayele Semachew Kasa, Srinivasa Vittal Katikireddi, Joonas H Kauppila, Taras Kavetskyy, Sewnet Adem Kebede, Pedram Keshavarz, Mohammad Keykhaei, Yousef Saleh Khader, Rovshan Khalilov, Gulfaraz Khan, Maseer Khan, Md Nuruzzaman Khan, Moien A B Khan, Young-Ho Khang, Amir M Khater, Maryam Khayamzadeh, Gyu Ri Kim, Yun Jin Kim, Adnan Kisa, Sezer Kisa, Katarzyna Kissimova-Skarbek, Jacek A Kopec, Rajasekaran Koteeswaran, Parvaiz A Koul, Sindhura Lakshmi Koulmane Laxminarayana, Ai Koyanagi, Burcu Kucuk Bicer, Nuworza Kugbey, G Anil Kumar, Narinder Kumar, Nithin Kumar, Om P Kurmi, Tezer Kutluk, Carlo La Vecchia, Faris Hasan Lami, Iván Landires, Paolo Lauriola, Sang-Woong Lee, Shaun Wen Huey Lee, Wei-Chen Lee, Yo Han Lee, James Leigh, Elvynna Leong, Jiarui Li, Ming-Chieh Li, Xuefeng Liu, Joana A Loureiro, Raimundas Lunevicius, Muhammed Magdy Abd El Razek, Azeem Majeed, Alaa Makki, Shilpa Male, Ahmad Azam Malik, Mohammad Ali Mansournia, Santi Martini, Seyedeh Zahra Masoumi, Prashant Mathur, Martin Mckee, Ravi Mehrotra, Walter Mendoza, Ritesh G Menezes, Endalkachew Worku Mengesha, Mohamed Kamal Mesregah, Tomislav Mestrovic, Junmei Miao Jonasson, Bartosz Miazgowski, Tomasz Miazgowski, Irmina Maria Michalek, Ted R Miller, Hamed Mirzaei, Hamid Reza Mirzaei, Sanjeev Misra, Prasanna Mithra, Masoud Moghadaszadeh, Karzan Abdulmuhsin Mohammad, Yousef Mohammad, Mokhtar Mohammadi, Seyyede Momeneh Mohammadi, Abdollah Mohammadian-Hafshejani, Shafiu Mohammed, Nagabhishek Moka, Ali H Mokdad, Mariam Molokhia, Lorenzo Monasta, Mohammad Ali Moni, Mohammad Amin Moosavi, Yousef Moradi, Paula Moraga, Joana Morgado-Da-Costa, Shane Douglas Morrison, Abbas Mosapour, Sumaira Mubarik, Lillian Mwanri, Ahamarshan Jayaraman Nagarajan, Shankar Prasad Nagaraju, Chie Nagata, Mukhammad David Naimzada, Vinay Nangia, Atta Abbas Naqvi, Sreenivas Narasimha Swamy, Rawlance Ndejjo, Sabina O Nduaguba, Ionut Negoi, Serban Mircea Negru, Sandhya Neupane Kandel, Cuong Tat Nguyen, Huong Lan Thi Nguyen, Robina Khan Niazi, Chukwudi A Nnaji, Nurulamin M Noor, Virginia Nuñez-Samudio, Chimezie Igwegbe Nzoputam, Bogdan Oancea, Chimedsuren Ochir, Oluwakemi Ololade Odukoya, Felix Akpojene Ogbo, Andrew T Olagunju, Babayemi Oluwaseun Olakunde, Emad Omar, Ahmed Omar Bali, Abidemi E Emmanuel Omonisi, Sokking Ong, Obinna E Onwujekwe, Hans Orru, Doris V Ortega-Altamirano, Nikita Otstavnov, Stanislav S Otstavnov, Mayowa O Owolabi, Mahesh P A, Jagadish Rao Padubidri, Keyvan Pakshir, Adrian Pana, Demosthenes Panagiotakos, Songhomitra Panda-Jonas, Shahina Pardhan, Eun-Cheol Park, Eun-Kee Park, Fatemeh Pashazadeh Kan, Harsh K Patel, Jenil R Patel, Siddhartha Pati, Sanjay M Pattanshetty, Uttam Paudel, David M Pereira, Renato B Pereira, Arokiasamy Perianayagam, Julian David Pillay, Saeed Pirouzpanah, Farhad Pishgar, Indrashis Podder, Maarten J Postma, Hadi Pourjafar, Akila Prashant, Liliana Preotescu, Mohammad Rabiee, Navid Rabiee, Amir Radfar, Raghu Anekal Radhakrishnan, Venkatraman Radhakrishnan, Ata Rafiee, Fakher Rahim, Shadi Rahimzadeh, Mosiur Rahman, Muhammad Aziz Rahman, Amir Masoud Rahmani, Nazanin Rajai, Aashish Rajesh, Ivo Rakovac, Pradhum Ram, Kiana Ramezanzadeh, Kamal Ranabhat, Priyanga Ranasinghe, Chythra R Rao, Sowmya J Rao, Reza Rawassizadeh, Mohammad Sadegh Razeghinia, Andre M N Renzaho, Negar Rezaei, Nima Rezaei, Aziz Rezapour, Thomas J Roberts, Jefferson Antonio Buendia Rodriguez, Peter Rohloff, Michele Romoli, Luca Ronfani, Gholamreza Roshandel, Godfrey M Rwegerera, Manjula S, Siamak Sabour, Basema Saddik, Umar Saeed, Amirhossein Sahebkar, Harihar Sahoo, Sana Salehi, Marwa Rashad Salem, Hamideh Salimzadeh, Mehrnoosh Samaei, Abdallah M Samy, Juan Sanabria, Senthilkumar Sankararaman, Milena M Santric-Milicevic, Yaeesh Sardiwalla, Arash Sarveazad, Brijesh Sathian, Monika Sawhney, Mete Saylan, Ione Jayce Ceola Schneider, Mario Sekerija, Allen Seylani, Omid Shafaat, Zahra Shaghaghi, Masood Ali Shaikh, Erfan Shamsoddin, Mohammed Shannawaz, Rajesh Sharma, Aziz Sheikh, Sara Sheikhbahaei, Adithi Shetty, Jeevan K Shetty, Pavanchand H Shetty, Kenji Shibuya, Reza Shirkoohi, K M Shivakumar, Velizar Shivarov, Soraya Siabani, Sudeep K Siddappa Malleshappa, Diego Augusto Santos Silva, Jasvinder A Singh, Yitagesu Sintayehu, Valentin Yurievich Skryabin, Anna Aleksandrovna Skryabina, Matthew J Soeberg, Ahmad Sofi-Mahmudi, Houman Sotoudeh, Paschalis Steiropoulos, Kurt Straif, Ranjeeta Subedi, Mu'awiyyah Babale Sufiyan, Iyad Sultan, Saima Sultana, Daniel Sur, Viktória Szerencsés, Miklós Szócska, Rafael Tabarés-Seisdedos, Takahiro Tabuchi, Hooman Tadbiri, Amir Taherkhani, Ken Takahashi, Iman M Talaat, Ker-Kan Tan, Vivian Y Tat, Bemnet Amare A Tedla, Yonas Getaye Tefera, Arash Tehrani-Banihashemi, Mohamad-Hani Temsah, Fisaha Haile Tesfay, Gizachew Assefa Tessema, Rekha Thapar, Aravind Thavamani, Viveksandeep Thoguluva Chandrasekar, Nihal Thomas, Hamid Reza Tohidinik, Mathilde Touvier, Marcos Roberto Tovani-Palone, Eugenio Traini, Bach Xuan Tran, Khanh Bao Tran, Mai Thi Ngoc Tran, Jaya Prasad Tripathy, Biruk Shalmeno Tusa, Irfan Ullah, Saif Ullah, Krishna Kishore Umapathi, Bhaskaran Unnikrishnan, Era Upadhyay, Marco Vacante, Maryam Vaezi, Sahel Valadan Tahbaz, Diana Zuleika Velazquez, Massimiliano Veroux, Francesco S Violante, Vasily Vlassov, Bay Vo, Victor Volovici, Giang Thu Vu, Yasir Waheed, Richard G Wamai, Paul Ward, Yi Feng Wen, Ronny Westerman, Andrea Sylvia Winkler, Lalit Yadav, Seyed Hossein Yahyazadeh Jabbari, Lin Yang, Sanni Yaya, Taklo Simeneh Yazie Yazie, Yigizie Yeshaw, Naohiro Yonemoto, Mustafa Z Younis, Zabihollah Yousefi, Chuanhua Yu, Deniz Yuce, Ismaeel Yunusa, Vesna Zadnik, Fariba Zare, Mikhail Sergeevich Zastrozhin, Anasthasia Zastrozhina, Jianrong Zhang, Chenwen Zhong, Linghui Zhou, Cong Zhu, Arash Ziapour, Ivan R Zimmermann, Christina Fitzmaurice, Christopher J L Murray, Lisa M Force

Faculty, Staff and Student Publications

IMPORTANCE: The Global Burden of Diseases, Injuries, and Risk Factors Study 2019 (GBD 2019) provided systematic estimates of incidence, morbidity, and mortality to inform local and international efforts toward reducing cancer burden.

OBJECTIVE: To estimate cancer burden and trends globally for 204 countries and territories and by Sociodemographic Index (SDI) quintiles from 2010 to 2019.

EVIDENCE REVIEW: The GBD 2019 estimation methods were used to describe cancer incidence, mortality, years lived with disability, years of life lost, and disability-adjusted life years (DALYs) in 2019 and over the past decade. Estimates are also provided by quintiles of the SDI, a composite …

Younger Age Of Stroke In Low-Middle Income Countries Is Related To Healthcare Access And Quality, Mohammad H Rahbar, Martin Medrano, Franck Diaz-Garelli, Cosme Gonzalez Villaman, Sepideh Saroukhani, Sori Kim, Amirali Tahanan, Yahaira Franco, Gelanys Castro-Tejada, Sarah A Diaz, Manouchehr Hessabi, Sean I Savitz

Faculty, Staff and Student Publications

Stroke is the second leading cause of mortality globally with higher burden and younger age in low-middle income countries (LMICs) than high-income countries (HICs). However, it is unclear to what extent differences in healthcare access and quality (HAQ) and prevalence of risk factors between LMICs and HICs contribute to younger age of stroke in LMICs. In this systematic review, we conducted meta-analysis of 67 articles and compared the mean age of stroke between LMICs and HICs, before and after adjusting for HAQ index. We also compared the prevalence of main stroke risk factors between HICs and LMICs. The unadjusted mean …

Elucidating The Clinical Spectrum And Molecular Basis Of Hyal2 Deficiency, James Fasham, Siying Lin, Promita Ghosh, Francesca Clementina Radio, Emily G Farrow, Isabelle Thiffault, Jennifer Kussman, Dihong Zhou, Rick Hemming, Kenneth Zahka, Barry A Chioza, Lettie E Rawlins, Olivia K Wenger, Adam C Gunning, Simone Pizzi, Roberta Onesimo, Giuseppe Zampino, Emily Barker, Natasha Osawa, Megan Christine Rodriguez, Teresa M Neuhann, Elaine H Zackai, Beth Keena, Jenina Capasso, Alex V Levin, Elizabeth Bhoj, Dong Li, Hakon Hakonarson, Ingrid M Wentzensen, Adam Jackson, Kate E Chandler, Zeynep H Coban-Akdemir, Jennifer E Posey, Siddharth Banka, James R Lupski, Sarah E Sheppard, Marco Tartaglia, Barbara Triggs-Raine, Andrew H Crosby, Emma L Baple

Faculty, Staff and Student Publications

PURPOSE: We previously defined biallelic HYAL2 variants causing a novel disorder in 2 families, involving orofacial clefting, facial dysmorphism, congenital heart disease, and ocular abnormalities, with Hyal2 knockout mice displaying similar phenotypes. In this study, we better define the phenotype and pathologic disease mechanism.

METHODS: Clinical and genomic investigations were undertaken alongside molecular studies, including immunoblotting and immunofluorescence analyses of variant/wild-type human HYAL2 expressed in mouse fibroblasts, and in silico modeling of putative pathogenic variants.

RESULTS: Ten newly identified individuals with this condition were investigated, and they were associated with 9 novel pathogenic variants. Clinical studies defined genotype-phenotype correlations and …

Post-Acquisition Hyperpolarized 29silicon Magnetic Resonance Image Processing For Visualization Of Colorectal Lesions Using A User-Friendly Graphical Interface, Caitlin V Mccowan, Duncan Salmon, Jingzhe Hu, Shivanand Pudakalakatti, Nicholas Whiting, Jennifer S Davis, Daniel D Carson, Niki M Zacharias, Pratip K Bhattacharya, Mary C Farach-Carson

Faculty, Staff and Student Publications

Medical imaging devices often use automated processing that creates and displays a self-normalized image. When improperly executed, normalization can misrepresent information or result in an inaccurate analysis. In the case of diagnostic imaging, a false positive in the absence of disease, or a negative finding when disease is present, can produce a detrimental experience for the patient and diminish their health prospects and prognosis. In many clinical settings, a medical technical specialist is trained to operate an imaging device without sufficient background information or understanding of the fundamental theory and processes involved in image creation and signal processing. Here, we …

The Mesencephalic Locomotor Region Recruits V2a Reticulospinal Neurons To Drive Forward Locomotion In Larval Zebrafish, Nicole Ilonzo, Ella Taubenfeld, Maisoon D Yousif, Claudine Henoud, Jake Howitt, Max Wohlauer, Mario D'Oria, Gretchen Maccarrick

Faculty, Staff and Student Publications

Although the topics of surgical techniques and medical therapies have been widely studied in aortic dissection (AD), studies examining the short- and long-term impact of this event on mental health are largely lacking. Many of the studies have used the 36-Item Short Form Survey at variable time points after the event. However, AD as medical trauma has a complex impact on a person's identity. Its implications for emotional, mental, social, existential, and self-concept could be explored more robustly. This topic was identified as a topic of interest by the AD Collaborative. The AD Collaborative Mental Health Working Group was formed …

Fungi: Friend Or Foe? A Mycobiome Evaluation In Children With Autism And Gastrointestinal Symptoms, Jane Alookaran, Yuying Liu, Thomas A Auchtung, Amirali Tahanan, Manouchehr Hessabi, Parisa Asgarisabet, Mohammad H Rahbar, Nicole Y Fatheree, Deborah A Pearson, Rosleen Mansour, Melissa R Van Arsdall, Fernando Navarro, J Marc Rhoads

Faculty, Staff and Student Publications

Gastrointestinal (GI) symptoms often affect children with autism spectrum disorders (ASD) and GI symptoms have been associated with an abnormal fecal microbiome. There is limited evidence of Candida species being more prevalent in children with ASD. We enrolled 20 children with ASD and GI symptoms (ASD+GI), 10 children with ASD but no GI symptoms (ASD−GI), and 20 from typically developing (TD) children (TD) in this pilot study. Fecal mycobiome taxa were analyzed by ITS sequencing. GI symptoms (GI Severity Index (GSI)), behavioral symptoms (Social Responsiveness Scale −2 (SRS-2)), inflammation and fungal immunity (fecal calprotectin and serum dectin-1 (ELISA)) were evaluated. …

Nonjudgmental Acceptance: Associations With Substance-Related Cue Reactivity In Adults With Substance Use Disorders And Posttraumatic Stress, Anka A Vujanovic, Heather E Webber, Margaret C Wardle, Charles E Green, Scott D Lane, Joy M Schmitz

Faculty, Staff and Student Publications

The present investigation examined the predictive utility of nonjudgmental acceptance, a facet of mindfulness defined as the ability to remain aware and nonevaluative about internal experience, in terms of substance-related cue reactivity among adults with substance use disorders (SUD) and posttraumatic stress (PTS) symptomatology. We hypothesized that higher nonjudgmental acceptance, indexed via self-report, would predict higher levels of self-reported control over oneself and safety 'in the moment', broadly, and lower levels of substance-related craving in response to substance script cues. Effects were expected after subtracting reactivity to neutral script cues from each outcome rating. PTS severity was included as a …

Artificial Intelligence And Chatbots In Psychiatry, Kay T Pham, Amir Nabizadeh, Salih Selek

Faculty, Staff and Student Publications

The utilization of artificial intelligence (AI) in psychiatry has risen over the past several years to meet the growing need for improved access to mental health solutions. Additionally, shortages of mental health providers during the COVID-19 pandemic have continued to exacerbate the burden of mental illness worldwide. AI applications already in existence include those enabled to assist with psychiatric diagnoses, symptom tracking, disease course prediction, and psychoeducation. Modalities of AI mental health care delivery include availability through the internet, smartphone applications, and digital gaming. Here we review emerging AI-based interventions in the form of chat and therapy bots, specifically conversational …

Tissue-Targeted Crispr-Cas9-Mediated Genome Editing Of Multiple Homeologs In F0 Generation Xenopus Laevis Embryos, Mark E Corkins, Bridget D Delay, Rachel K Miller

Faculty, Staff and Student Publications

Xenopus laevis frogs are a powerful developmental model that enables studies combining classical embryology and molecular manipulation. Because of the large embryo size, ease of microinjection, and ability to target tissues through established fate maps, X. laevis have become the predominant amphibian research model. Given that their allotetraploid genome has complicated the generation of gene knockouts, strategies need to be established for efficient mutagenesis of multiple homeologs to evaluate gene function. Here we describe a protocol to utilize CRISPR-Cas9-mediated genome editing to target either single alleles or multiple alloalleles in F0 X. laevis embryos. A single guide (sg) RNA is …

Fungi: Friend Or Foe? A Mycobiome Evaluation In Children With Autism And Gastrointestinal Symptoms, Jane Alookaran, Yuying Liu, Thomas A Auchtung, Amirali Tahanan, Manouchehr Hessabi, Parisa Asgarisabet, Mohammad H Rahbar, Nicole Y Fatheree, Deborah A Pearson, Rosleen Mansour, Melissa R Van Arsdall, Fernando Navarro, J Marc Rhoads

Faculty, Staff and Student Publications

Gastrointestinal (GI) symptoms often affect children with autism spectrum disorders (ASD) and GI symptoms have been associated with an abnormal fecal microbiome. There is limited evidence of Candida species being more prevalent in children with ASD. We enrolled 20 children with ASD and GI symptoms (ASD + GI), 10 children with ASD but no GI symptoms (ASD - GI), and 20 from typically developing (TD) children in this pilot study. Fecal mycobiome taxa were analyzed by Internal Transcribed Spacer sequencing. GI symptoms (GI Severity Index [GSI]), behavioral symptoms (Social Responsiveness Scale -2 [SRS-2]), inflammation and fungal immunity (fecal calprotectin and …

Kaposiform Lymphangiomatosis Presenting With A Group A Streptococcus Pericardial Effusion, Taylor Koerner, Mehul D Patel, Vinay Pai, Gitanjali Indramohan

Faculty, Staff and Student Publications

A 4-year-old child was transferred to the paediatric intensive care unit with acute respiratory failure following 4 days of fever, nausea and vomiting. Chest X-ray on admission had an enlarged cardiac silhouette and transthoracic echo confirmed a large pericardial effusion. An emergent pericardiocentesis was performed at bedside which drained nearly 1000 mL of purulent fluid. Postdrainage course was complicated by acute systolic and diastolic heart failure, thrombocytopenia and acute renal failure. A chest CT and MRI were concerning for a diffuse mediastinal soft-tissue density, so the patient underwent interventional radiology-guided biopsy complicated by haemorrhage requiring mediastinal exploration and subtotal thymectomy. …

Wavelet Analysis Reveals Differential Lower Limb Muscle Activity Patterns Long After Anterior Cruciate Ligament Reconstruction, Payam Zandiyeh, Lauren R Parola, Braden C Fleming, Jillian E Beveridge

Faculty, Staff and Student Publications

The purpose of this study was to test whether differences in muscle activity patterns between anterior cruciate ligament-reconstructed patients (ACLR) and healthy controls could be detected 10 to 15 years post-surgery using a machine learning classification approach. Eleven ACLR subjects and 12 healthy controls were recruited from an ongoing prospective randomized clinical trial. Surface electromyography (EMG) signals were recorded from gastrocnemius medialis and lateralis, tibialis anterior, vastus medialis, rectus femoris, biceps femoris, and semitendinosus muscles. Muscle activity was analyzed using wavelet analysis and examined within four sub-phases of the hop test, as well as an average of the task as …

Underutilization Of Endovascular Therapy In Black Patients With Ischemic Stroke: An Analysis Of State And Nationwide Cohorts, Youngran Kim, Anjail Sharrief, Min Ji Kwak, Swapnil Khose, Rania Abdelkhaleq, Sergio Salazar-Marioni, Guo-Qiang Zhang, Sunil A Sheth

Faculty, Staff and Student Publications

BACKGROUND AND PURPOSE: Endovascular therapy (EVT) is a very effective treatment but relies on specialized capabilities that are not available in every hospital where acute ischemic stroke is treated. Here, we assess whether access to and utilization of this therapy has extended uniformly across racial and ethnic groups.

METHODS: We conducted a retrospective, population-based study using the 2019 Texas Inpatient Public Use Data File. Acute ischemic stroke cases and EVT use were identified using the

RESULTS: Among 40 814 acute ischemic stroke cases in Texas in 2019, 54% were White, 17% Black, and 21% Hispanic. Black patients had similar admissions …

Stat6 Blockade Abrogates Aspergillus-Induced Eosinophilic Chronic Rhinosinusitis And Asthma, A Model Of Unified Airway Disease, Hua Sun, Ashish Damania, Megan L Mair, Eniola Otukoya, Yi-Dong Li, Katherine Polsky, Yuying Zeng, Jeremiah A Alt, Martin J Citardi, David B Corry, Amber U Luong, John Morgan Knight

Faculty, Staff and Student Publications

Unified airway disease, including concurrent asthma and chronic rhinosinusitis (CRS), is a common, but poorly understood disorder with no curative treatment options. To establish a murine model of chronic unified eosinophilic airway inflammation, mice were challenged with Aspergillus niger, and sinonasal mucosa and lung tissue were evaluated by immunohistochemistry, flow cytometry, and gene expression. Inhalation of A niger conidia resulted in a Th2-biased lung and sinus inflammation that typifies allergic asthma and CRS. Gene network and pathway analysis correlated with human disease with upregulation of not only the JAK-STAT and helper T-cell pathways, but also less expected pathways governing …

Mild Encephalitis/Encephalopathy With A Reversible Splenial Lesion Associated With Systemic Mycoplasma Pneumoniae Infection In North America: A Case Report, Nafee T Talukder, Ashlea Feezel, Jeremy E Lankford

Faculty, Staff and Student Publications

BACKGROUND: Mild encephalitis/encephalopathy with reversible splenial lesion is a clinical-radiological entity found to occur in the setting of an acute systemic inflammatory state with isolated lesions of the splenium of the corpus callosum and mild encephalopathy. Mild encephalitis/encephalopathy with reversible splenial lesion is commonly found to occur in children in the setting of viral infections. It has rarely been associated with Mycoplasma pneumoniae in the United States, unlike in Eastern and Southern Asia where this is much more prominent.

CASE PRESENTATIONS: A 5-year-old African-American boy with autism spectrum disorder presented to our emergency department with acute onset intractable vomiting, diarrhea, …

Crare Coding Variants In Rcn3 Are Associated With Blood Pressure, Karen Y He, Tanika N Kelly, Heming Wang, Jingjing Liang, Luke Zhu, Brian E Cade, Themistocles L Assimes, Lewis C Becker, Amber L Beitelshees, Lawrence F Bielak, Adam P Bress, Jennifer A Brody, Yen-Pei Christy Chang, Yi-Cheng Chang, Paul S De Vries, Ravindranath Duggirala, Ervin R Fox, Nora Franceschini, Anna L Furniss, Yan Gao, Xiuqing Guo, Jeffrey Haessler, Yi-Jen Hung, Shih-Jen Hwang, Marguerite Ryan Irvin, Rita R Kalyani, Ching-Ti Liu, Chunyu Liu, Lisa Warsinger Martin, May E Montasser, Paul M Muntner, Stanford Mwasongwe, Take Naseri, Walter Palmas, Muagututi'a Sefuiva Reupena, Kenneth M Rice, Wayne H-H Sheu, Daichi Shimbo, Jennifer A Smith, Beverly M Snively, Lisa R Yanek, Wei Zhao, John Blangero, Eric Boerwinkle, Yii-Der Ida Chen, Adolfo Correa, L Adrienne Cupples, Joanne E Curran, Myriam Fornage, Jiang He, Lifang Hou, Robert C Kaplan, Sharon L R Kardia, Eimear E Kenny, Charles Kooperberg, Donald Lloyd-Jones, Ruth J F Loos, Rasika A Mathias, Stephen T Mcgarvey, Braxton D Mitchell, Kari E North, Patricia A Peyser, Bruce M Psaty, Laura M Raffield, D C Rao, Susan Redline, Alex P Reiner, Stephen S Rich, Jerome I Rotter, Kent D Taylor, Russell Tracy, Ramachandran S Vasan, Samoan Obesity, Lifestyle And Genetic Adaptations Study (Olaga) Group, Nhlbi Trans-Omics For Precision Medicine (Topmed) Consortium, Alanna C Morrison, Daniel Levy, Aravinda Chakravarti, Donna K Arnett, Xiaofeng Zhu

Faculty, Staff and Student Publications

BACKGROUND: While large genome-wide association studies have identified nearly one thousand loci associated with variation in blood pressure, rare variant identification is still a challenge. In family-based cohorts, genome-wide linkage scans have been successful in identifying rare genetic variants for blood pressure. This study aims to identify low frequency and rare genetic variants within previously reported linkage regions on chromosomes 1 and 19 in African American families from the Trans-Omics for Precision Medicine (TOPMed) program. Genetic association analyses weighted by linkage evidence were completed with whole genome sequencing data within and across TOPMed ancestral groups consisting of 60,388 individuals of …

Blood–Brain Barrier Disruption Mediated By Ffa1 Receptor—Evidence Using Miniscope, Kristen L Lindenau, Jeffrey L Barr, Christopher R Higgins, Kevin T Sporici, Eugen Brailoiu, Gabriela C Brailoiu

Faculty, Staff and Student Publications

Omega-3 polyunsaturated fatty acids (n-3 PUFAs), obtained from diet and dietary supplements, have been tested in clinical trials for the prevention or treatment of several diseases. n-3 PUFAs exert their effects by activation of free fatty acid (FFA) receptors. FFA1 receptor, expressed in the pancreas and brain, is activated by medium- to long-chain fatty acids. Despite some beneficial effects on cognition, the effects of n-3 PUFAs on the blood-brain barrier (BBB) are not clearly understood. We examined the effects of FFA1 activation on BBB permeability in vitro, using rat brain microvascular endothelial cells (RBMVEC), and in vivo, by assessing Evans …

Applying Evidence-Based Intervention (Ebi) Mapping To Identify The Components And Logic Of Colorectal Cancer Screening Interventions, Jacob Szeszulski, Derek W Craig, Timothy J Walker, Maya Foster, Patricia Dolan Mullen, Maria E Fernandez

Faculty, Staff and Student Publications

Implementation of evidence-based interventions (EBIs) can help to increase colorectal cancer screening (CRCS). Potential users of CRCS EBIs are often unclear about the specific features, logic, and core elements of existing EBIs, making it challenging to use or adapt them. We used EBI Mapping, a systematic process developed from Intervention Mapping that identifies an EBI's components and logic, to characterize existing CRCS EBIs from the National Cancer Institute's Evidence-Based Cancer Control Programs website. The resulting information can facilitate intervention adoption, adaptation, and/or implementation. Two trained coders independently coded intervention materials to describe intervention components and logic (n = 20). We …

Differences In Psychosocial Constructs Among Elementary School Staff That Implement Physical Activity Programs: A Step In Designing Implementation Strategies, Jacob Szeszulski, Timothy J Walker, Michael C Robertson, Maria E Fernandez

Faculty, Staff and Student Publications

Multiple types of school staff members (e.g., classroom teachers, principals) are involved in implementing physical activity programs (e.g., classroom-based, gym), but factors specific to their job responsibilities may inhibit their ability to implement programming effectively. Thus, implementation strategies tailored by job type may be needed. We compare perceptions of behavioral constructs related to implementation of school-based physical activity programs, by job type, among school staff. School staff (n = 139), including principals/assistant principals (n = 21), physical education teachers (n = 41), and classroom teachers (n = 77), from elementary schools (n = 25), completed a cross-sectional survey measuring perceptions …

Virtual Simulated Implantation Of An Adult-Sized Left Ventricular Assist Device In A Pediatric Patient, Dilachew A Adebo, Santosh C Uppu, Avichal Aggarwal, Jorge D Salazar, Damien J Lapar

Faculty, Staff and Student Publications

There is very limited experience with simulated virtual implantation of left ventricular assist devices (LVADs) to assess device fitness in pediatric patients. In this clinical vignette, we report the case of a 9-year-old male patient with dilated cardiomyopathy who underwent successful placement of an LVAD after virtual simulated implantation was performed. (Level of Difficulty: Advanced.)

Fully Resolved Assembly Of Cryptosporidium Parvum, Vipin K Menon, Pablo C Okhuysen, Cynthia L Chappell, Medhat Mahmoud, Medhat Mahmoud, Qingchang Meng, Harsha Doddapaneni, Vanesa Vee, Yi Han, Sejal Salvi, Sravya Bhamidipati, Kavya Kottapalli, George Weissenberger, Hua Shen, Matthew C Ross, Kristi L Hoffman, Sara Javornik Cregeen, Donna M Muzny, Ginger A Metcalf, Richard A Gibbs, Joseph F Petrosino, Fritz J Sedlazeck

Faculty, Staff and Student Publications

BACKGROUND: Cryptosporidium parvum is an apicomplexan parasite commonly found across many host species with a global infection prevalence in human populations of 7.6%. Understanding its diversity and genomic makeup can help in fighting established infections and prohibiting further transmission. The basis of every genomic study is a high-quality reference genome that has continuity and completeness, thus enabling comprehensive comparative studies.

FINDINGS: Here, we provide a highly accurate and complete reference genome of Cryptosporidium parvum. The assembly is based on Oxford Nanopore reads and was improved using Illumina reads for error correction. We also outline how to evaluate and choose from …

The Association Between Rest-Activity Rhythms And Glycemic Markers: The Us National Health And Nutrition Examination Survey, 2011-2014, Qian Xiao, Charles E Matthews, Mary Playdon, Cici Bauer

Faculty, Staff and Student Publications

OBJECTIVES: Previous studies conducted in mostly homogeneous sociodemographic samples have reported a relationship between weakened and/or disrupted rest-activity patterns and metabolic dysfunction. This study aims to examine rest-activity rhythm characteristics in relation to glycemic markers in a large nationally representative and diverse sample of American adults.

METHODS: This study used data from the National Health and Nutrition Examination Survey 2011-2014. Rest-activity characteristics were derived from extended cosine models using 24-hour actigraphy. We used multinomial logistic regression and multiple linear regression models to assess the associations with multiple glycemic markers (i.e., glycated hemoglobin, fasting glucose and insulin, homeostatic model assessment of …

Developing Microbial Co-Culture System For Enhanced Polyhydroxyalkanoates (Pha) Production Using Acid Pretreated Lignocellulosic Biomass, Rijuta Ganesh Saratale, Si-Kyung Cho, Avinash Ashok Kadam, Gajanan Sampatrao Ghodake, Manu Kumar, Ram Naresh Bharagava, Sunita Varjani, Supriya Nair, Dong-Su Kim, Han-Seung Shin, Ganesh Dattatraya Saratale

Faculty, Staff and Student Publications

In the growing polymer industry, the interest of researchers is captivated by bioplastics production with biodegradable and biocompatible properties. This study examines the polyhydroxyalkanoates (PHA) production performance of individual Lysinibacillus sp. RGS and Ralstonia eutropha ATCC 17699 and their co-culture by utilizing sugarcane bagasse (SCB) hydrolysates. Initially, acidic (H2SO4) and acidified sodium chlorite pretreatment was employed for the hydrolysis of SCB. The effects of chemical pretreatment on the SCB biomass assembly and its chemical constituents were studied by employing numerous analytical methods. Acidic pretreatment under optimal conditions showed effective delignification (60%) of the SCB biomass, leading to a maximum hydrolysis …

The Frequency Of Pathogenic Variation In The All Of Us Cohort Reveals Ancestry-Driven Disparities, Oi-Wa Chan, Wan-Hsuan Chen, Jainn-Jim Lin, Ming-Chou Chiang, Shao-Hsuan Hsia, Huei-Shyong Wang, En-Pei Lee, Yi-Shan Wang, Cheng-Yen Kuo, Kuang-Lin Lin, Icns Group

Faculty, Staff and Student Publications

BACKGROUND: In general clinical practice, neonatal seizures are identified visually by direct clinical observation. The study aimed to examine the frequency of clinical seizures in paroxysmal events in a neonatal intensive care unit.

METHODS: We conducted a prospective study of continuous video-EEG monitoring in a neonatal intensive care unit between January 2017 and December 2020. The demographic data were also reviewed.

RESULTS: Sixty-four neonates were enrolled. The median total video-EEG monitoring duration was 24.1 h (IQR 17.5-44.8 h). There were 309 clinically suspected seizure episodes, of which 181 (58.6%) were the motor type and 128 (41.4%) were the non-motor type. …

Translating Research Into Practice-Implementation Recommendations For Pediatric Rheumatology; Proceedings Of The Childhood Arthritis And Rheumatology Research Alliance 2020 Implementation Science Retreat, Cagri Yildirim-Toruner, Rajdeep Pooni, Y Ingrid Goh, Emily Becker-Haimes, James W Dearing, Maria E Fernandez, Esi M Morgan, Gareth Parry, Jon M Burnham, Stacy P Ardoin, Fatima Barbar-Smiley, Joyce C Chang, Peter Chiraseveenuprapund, Vincent Del Gaizo, Guy Eakin, Lisa C Johnson, Yukiko Kimura, Andrea M Knight, Melanie Kohlheim, Erica F Lawson, Mindy S Lo, Nancy Pan, Andrea Ring, Tova Ronis, Rebecca E Sadun, Emily A Smitherman, Alysha J Taxter, Janalee Taylor, Richard K Vehe, Sheetal S Vora, Jennifer E Weiss, Emily Von Scheven, Mas For The Carra Implementation Science Workgroup

Faculty, Staff and Student Publications

The translation of research findings into clinical practice is challenging, especially fields like in pediatric rheumatology, where the evidence base is limited, there are few clinical trials, and the conditions are rare and heterogeneous. Implementation science methodologies have been shown to reduce the research- to- practice gap in other clinical settings may have similar utility in pediatric rheumatology. This paper describes the key discussion points from the inaugural Childhood Arthritis and Rheumatology Research Alliance Implementation Science retreat held in February 2020. The aim of this report is to synthesize those findings into an Implementation Science Roadmap for pediatric rheumatology research. …

Home-Based Spirometry Telemonitoring After Allogeneic Hematopoietic Cell Transplantation: Mixed Methods Evaluation Of Acceptability And Usability, Ajay Sheshadri, Sukh Makhnoon, Amin M Alousi, Lara Bashoura, Rene Andrade, Christopher J Miller, Karen R Stolar, Muhammad Hasan Arain, Laila Noor, Amulya Balagani, Akash Jain, David Blanco, Abel Ortiz, Michael S Taylor, Alex Stenzler, Rohtesh Mehta, Uday R Popat, Chitra Hosing, David E Ost, Richard E Champlin, Burton F Dickey, Susan K Peterson

Faculty, Staff and Student Publications

Background: Home-based spirometry (HS) allows for the early detection of lung complications in recipients of an allogeneic hematopoietic cell transplant (AHCT). Although the usability and acceptability of HS are critical for adherence, patient-reported outcomes of HS use remain poorly understood in this setting.

Objective: The aim of this study is to design a longitudinal, mixed methods study to understand the usability and acceptability of HS among recipients of AHCT.

Methods: Study participants performed HS using a Bluetooth-capable spirometer that transmitted spirometry data to the study team in real time. In addition, participants completed usability questionnaires and in-depth interviews and reported …

Multiple Approaches Converge On Three Biological Subtypes Of Meningioma And Extract New Insights From Published Studies, James C Bayley, Caroline C Hadley, Arif O Harmanci, Akdes S Harmanci, Tiemo J Klisch, Akash J Patel

Faculty, Staff and Student Publications

One-fifth of meningiomas classified as benign by World Health Organization (WHO) histopathological grading will behave malignantly. To better diagnose these tumors, several groups turned to DNA methylation, whereas we combined RNA-sequencing (RNA-seq) and cytogenetics. Both approaches were more accurate than histopathology in identifying aggressive tumors, but whether they revealed similar tumor types was unclear. We therefore performed unbiased DNA methylation, RNA-seq, and cytogenetic profiling on 110 primary meningiomas WHO grade I and II). Each technique distinguished the same three groups (two benign and one malignant) as our previous molecular classification; integrating these methods into one classifier further improved accuracy. Computational …