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Whole-Exome Sequencing-Based Linkage Analysis Of Multiple Myeloma (Mm) And Monoclonal Gammopathy Of Undetermined Significance (Mgus) Pedigrees, Alyssa I Clay-Gilmour, Nicola J Camp, Xiaomu Wei, Angel Earle, Aaron Norman, Jason Sinnwell, Delphine Demangel, Rosalie Griffin, Charles Dumontet, James Mckay, Ken Offit, Vijai Joseph, Siwei Chen, Daniel O'Brien, Vincent Rajkumar, Robert Klein, Shaji Kumar, Steve Lipkin, Celine M Vachon Nov 2025

Whole-Exome Sequencing-Based Linkage Analysis Of Multiple Myeloma (Mm) And Monoclonal Gammopathy Of Undetermined Significance (Mgus) Pedigrees, Alyssa I Clay-Gilmour, Nicola J Camp, Xiaomu Wei, Angel Earle, Aaron Norman, Jason Sinnwell, Delphine Demangel, Rosalie Griffin, Charles Dumontet, James Mckay, Ken Offit, Vijai Joseph, Siwei Chen, Daniel O'Brien, Vincent Rajkumar, Robert Klein, Shaji Kumar, Steve Lipkin, Celine M Vachon

Faculty, Staff and Student Publications

Background/objectives: Family history is a known risk factor for multiple myeloma (MM) and its precursor condition, monoclonal gammopathy of undetermined significance (MGUS). Previous genome-wide association studies (GWASs) have identified 35 common loci associated with MM risk and 21 associated with MGUS. The objective of this study was to identify less common and rare genetic loci predisposing to MM/MGUS through whole-exome sequencing (WES)-based linkage analysis.

Methods: Multipoint linkage analysis was conducted using the Multipoint Engine for Rapid Likelihood Inference (MERLIN) with the Lander-Green algorithm on germline WES data from 79 pedigrees with 2 or more affected relatives (120 MM, 86 MGUS, …


Investigating Prognostic Features In High-Grade Serous Ovarian Cancer Through Gene Regulatory Network Inference With Single-Cell Transcriptomic Profiles, Toshiyuki Itai, Yulin Dai, Wendao Liu, Dung-Fang Lee, Zhongming Zhao Nov 2025

Investigating Prognostic Features In High-Grade Serous Ovarian Cancer Through Gene Regulatory Network Inference With Single-Cell Transcriptomic Profiles, Toshiyuki Itai, Yulin Dai, Wendao Liu, Dung-Fang Lee, Zhongming Zhao

Faculty, Staff and Student Publications

This study aimed to identify prognostic features in high-grade serous ovarian cancer (HGSOC) through the application of gene regulatory network (GRN) inference with single-cell RNA-sequencing (scRNA-seq) profiles. To achieve this goal, we developed a workflow comprising scRNA-seq analysis, metacell construction, GRN inference, and a binary classification task for prognosis prediction. We curated 118,173 cells from HGSOC patients in three conditions (Before-chemotherapy, After-chemotherapy, and control samples) from previous studies, and then constructed 1,211 metacells. GRN inference analysis revealed 312 regulons, each consisting of one transcription factor and its targeted features. For prognosis evaluation, we used bulk RNA-seq data covering 342 HGSOC …


Development Of A Targeted Bioprotac Degrader Selective For Misfolded Sod1, Christen G Chisholm, Rachael Bartlett, Mikayla L Brown, Emma-Jayne Proctor, Natalie E Farrawell, Jody Gorman, Fabien Delerue, Lars M Ittner, Kara L Vine-Perrow, Heath Ecroyd, Neil R Cashman, Darren N Saunders, Luke Mcalary, Jeremy S Lum, Justin J Yerbury Nov 2025

Development Of A Targeted Bioprotac Degrader Selective For Misfolded Sod1, Christen G Chisholm, Rachael Bartlett, Mikayla L Brown, Emma-Jayne Proctor, Natalie E Farrawell, Jody Gorman, Fabien Delerue, Lars M Ittner, Kara L Vine-Perrow, Heath Ecroyd, Neil R Cashman, Darren N Saunders, Luke Mcalary, Jeremy S Lum, Justin J Yerbury

Faculty, Staff and Student Publications

The accumulation of misfolded proteins underlies a broad range of neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS). Due to their dynamic nature, these misfolded proteins have proven challenging to target therapeutically. Here, we specifically target misfolded disease variants of the ALS-associated protein superoxide dismutase 1 (SOD1), using a biological proteolysis targeting chimera (BioPROTAC) composed of a SOD1-specific intrabody and an E3 ubiquitin ligase. Screening of intrabodies and E3 ligases for optimal BioPROTAC construction reveals a candidate capable of degrading multiple disease variants of SOD1, preventing their aggregation in cells. Using CRISPR/Cas9 technology to develop a BioPROTAC transgenic mouse line, we …


Tackling The Burden Of Envenomation In Africa: Advances, Challenges, And Strategic Priorities For Enhanced Diagnosis And Treatment, Khawla Ammouch, Nihal Mesmoudi, Noureddine Hammani, Jacob Galan, Abdellah Moustaghfir, Reto Stöcklin, Naoual Oukkache Nov 2025

Tackling The Burden Of Envenomation In Africa: Advances, Challenges, And Strategic Priorities For Enhanced Diagnosis And Treatment, Khawla Ammouch, Nihal Mesmoudi, Noureddine Hammani, Jacob Galan, Abdellah Moustaghfir, Reto Stöcklin, Naoual Oukkache

Human Genetics Publications

Venomous animal envenomation remains a significant but neglected public health problem worldwide, with an estimated 5.4 million cases and up to 138,000 deaths annually. The burden is particularly acute in tropical and subtropical regions, especially sub-Saharan Africa, where rural and vulnerable populations face limited access to effective antivenoms and healthcare. Despite this, comprehensive data on envenomation incidence, clinical management, and outcomes remain scarce, hampering efforts to develop effective prevention and treatment strategies. This review synthesizes current knowledge on venomous animal diversity, epidemiology, and clinical manifestations globally, with a focus on Africa’s unique challenges. We examine critical gaps in antivenom production, …


[Kyda] The Role Of Human Movement On The Spread Of Mosquito-Borne Diseases, Omar Saucedo Nov 2025

[Kyda] The Role Of Human Movement On The Spread Of Mosquito-Borne Diseases, Omar Saucedo

Annual Symposium on Biomathematics and Ecology Education and Research

No abstract provided.


The Effect Of High-Intensity Interval Training On Visceral Adipose Tissue In Type 2 Diabetes: A Systematic Review, Ivan D. Delgado, Julio C. Delgado, Ryan D. Burns Nov 2025

The Effect Of High-Intensity Interval Training On Visceral Adipose Tissue In Type 2 Diabetes: A Systematic Review, Ivan D. Delgado, Julio C. Delgado, Ryan D. Burns

International Journal of Exercise Science

International Journal of Exercise Science 18(5): 1321-1333, 2025. https://doi.org/10.70252/YEUF2363 Visceral adipose tissue (VAT) is a significant contributor to insulin resistance in type 2 diabetes (T2D). The effectiveness of time-efficient high-intensity interval training (HIIT) in reducing VAT has not been reviewed. A systematic search conducted on PubMed, Embase, and SPORTDiscus up to April 2025 for randomized controlled trials that compared HIIT with non-exercise control and quantified VAT using imaging identified five trials (n = 138) that met inclusion criteria. Risk of bias was assessed using a nine-item modified PEDro scale. Four trials reported significant reductions in VAT after 8-12 weeks of …


Effects Of A Personalized Fitness Program Provided By Undergraduate Exercise Science Students On Attitudes Toward Exercise, Mental Health, And Quality Of Life, Kris M. Cleveland, Jacob Fike, Scott Peterson Nov 2025

Effects Of A Personalized Fitness Program Provided By Undergraduate Exercise Science Students On Attitudes Toward Exercise, Mental Health, And Quality Of Life, Kris M. Cleveland, Jacob Fike, Scott Peterson

International Journal of Exercise Science

International Journal of Exercise Science 18(4): 1334-1343, 2025. https://doi.org/10.70252/IYNS6043 Personalized fitness training is designed to improve physical health and fitness, but may also promote mental health and well-being. The purpose of this study was to determine whether there are positive psychological outcomes for clients participating in a community-based personalized fitness program led by undergraduate Exercise Science students. A total of 44 participants completed a battery of psychological scales both before and after participation in a 12-week university-sponsored personalized fitness training program. Psychological measures included the Exercise Attitudes Scale, Self-Efficacy Scale for Exercise, Short Warwick-Edinburgh Mental Well-Being Scale, Health Status Questionnaire, …


Probabilistic Modeling Of Antibody Kinetics Post Infection And Vaccination, Rayanne Luke, Prajakta Bedekar, Anthony J. Kearsley Nov 2025

Probabilistic Modeling Of Antibody Kinetics Post Infection And Vaccination, Rayanne Luke, Prajakta Bedekar, Anthony J. Kearsley

Annual Symposium on Biomathematics and Ecology Education and Research

No abstract provided.


Mentoring First-Year Stem Students Through Collaborative Research In The Haynes Scholars Program, Alex Capaldi, Laura Tipton Nov 2025

Mentoring First-Year Stem Students Through Collaborative Research In The Haynes Scholars Program, Alex Capaldi, Laura Tipton

Annual Symposium on Biomathematics and Ecology Education and Research

No abstract provided.


Machine Learning–Based Prediction Of Bleeding Risk In Factor Xi Deficiency, Tracey G. Oellerich, Stephanie Reitsma, Alisa Wolberg, Karin Leiderman, Suzanne Sindi Nov 2025

Machine Learning–Based Prediction Of Bleeding Risk In Factor Xi Deficiency, Tracey G. Oellerich, Stephanie Reitsma, Alisa Wolberg, Karin Leiderman, Suzanne Sindi

Annual Symposium on Biomathematics and Ecology Education and Research

No abstract provided.


Histamine And Serotonin Impact Anopheles Stephensi Population Dynamics And Malaria Transmission: Perspectives From Mathematical Modeling, Michael Robert Nov 2025

Histamine And Serotonin Impact Anopheles Stephensi Population Dynamics And Malaria Transmission: Perspectives From Mathematical Modeling, Michael Robert

Annual Symposium on Biomathematics and Ecology Education and Research

No abstract provided.


Planarian Exposure To The Herbicide 2,4- Dichlorophenoxyacetic (2,4-D), Emily Pintilie, Alexis Galindez, Cassandra S. Korte Nov 2025

Planarian Exposure To The Herbicide 2,4- Dichlorophenoxyacetic (2,4-D), Emily Pintilie, Alexis Galindez, Cassandra S. Korte

Women in Science Conference

Poster presentation given at the 2025-26 Women in Science Conference in the Christine E Lynn University Center, 2nd floor, 240-241, held on Saturday, Nov. 8, 2025.


Bisphenol A Effects On Stress Behaviors, Alexis Galindez, Kevin Sosa, Emily Pintilie, Cassandra S. Korte Nov 2025

Bisphenol A Effects On Stress Behaviors, Alexis Galindez, Kevin Sosa, Emily Pintilie, Cassandra S. Korte

Women in Science Conference

Poster presentation given at the 2025-26 Women in Science Conference in the Christine E Lynn University Center, 2nd floor, 240-241, held on Saturday, Nov. 8, 2025.


Mathematical Models For The Eye -- From The Tear Film To The Retina, Daniel Anderson Nov 2025

Mathematical Models For The Eye -- From The Tear Film To The Retina, Daniel Anderson

Annual Symposium on Biomathematics and Ecology Education and Research

No abstract provided.


2025-26 Women In Science Conference Schedule (Pdf), Lynn University Nov 2025

2025-26 Women In Science Conference Schedule (Pdf), Lynn University

Women in Science Conference

No abstract provided.


Commercial Laying Hen Farms' General Characteristics, Environmental Management, And Biosecurity Practices In The Sub-Arid Area Of Algeria, Yacine Kasmi, Nouzha Heleili, Zohra Ahmed Gaid, Brahim Hamad, Leyla Hadef, Manel Merradi Nov 2025

Commercial Laying Hen Farms' General Characteristics, Environmental Management, And Biosecurity Practices In The Sub-Arid Area Of Algeria, Yacine Kasmi, Nouzha Heleili, Zohra Ahmed Gaid, Brahim Hamad, Leyla Hadef, Manel Merradi

The Thai Journal of Veterinary Medicine

The success of commercial laying hen farms depends on the possibility of managing environmental conditions properly and performing strict biosecurity measures, which would increase productivity, enhance the performance of the flock, and save money, especially in regions characterized by challenging climatic conditions, such as the sub-arid and arid areas. There is, however, very little literature exploring these issues in the Algerian context. The objective of the study was to assess environmental management and biosecurity practices, and the relationship between these and farm size in the Algerian sub-arid area (northeast Algeria). The face-to-face interviews were conducted between January 2024 and April …


Untargeted Metabolomics Reveals Organ-Specific And Extraction-Dependent Metabolite Profiles In Endemic Tajik Species Ferula Violacea Korovin, Sylhiya Mavlonazarova, Kenneth Acosta, Rinat Abzalimov, Saidbeg Satorov, Vyacheslav Dushenkov Nov 2025

Untargeted Metabolomics Reveals Organ-Specific And Extraction-Dependent Metabolite Profiles In Endemic Tajik Species Ferula Violacea Korovin, Sylhiya Mavlonazarova, Kenneth Acosta, Rinat Abzalimov, Saidbeg Satorov, Vyacheslav Dushenkov

Publications and Research

Ferula violacea Korovin, an endemic Tajikistani plant with purported medicinal properties, remains understudied. This study employs untargeted metabolomics to characterize the metabolite profiles of ethanol extracts and juices from F. violacea roots and seeds. In total, 540 distinct metabolites are putatively identified, 419 of which are previously unreported in the Ferula genus, representing a substantial expansion of its known chemical diversity. The most abundant metabolites are terpenoids, amino acid derivatives, and alkaloids. A particularly abundant group of daucane sesquiterpenoids, sharing a common (6-methyl-azulen-4-yl) cyclohexanecarboxylate substructure, is identified, including known metabolites such as ferutidin and ferutinin. Comparative analysis reveals organ-specific metabolic …


A Compartmental Model For Annual Bat Migration, Elena D. Wheatley, Rhianna Yates, Leah Glasser, Christopher Hay-Jahans Nov 2025

A Compartmental Model For Annual Bat Migration, Elena D. Wheatley, Rhianna Yates, Leah Glasser, Christopher Hay-Jahans

Annual Symposium on Biomathematics and Ecology Education and Research

No abstract provided.


Modeling The Impact Of Treatment During An Ongoing Tuberculosis Outbreak, Bach Le, Jude Shive, Erin N. Bodine Nov 2025

Modeling The Impact Of Treatment During An Ongoing Tuberculosis Outbreak, Bach Le, Jude Shive, Erin N. Bodine

Annual Symposium on Biomathematics and Ecology Education and Research

No abstract provided.


Analyzing Urban Space-Use Of White-Tailed Deer (Odocoileus Virginianus), Szandra A. Péter, Zehidul Hussain, Solena Kronstedt, Amira Roess, Jennifer Mullinax, Travis Gallo, Taylor Anderson Nov 2025

Analyzing Urban Space-Use Of White-Tailed Deer (Odocoileus Virginianus), Szandra A. Péter, Zehidul Hussain, Solena Kronstedt, Amira Roess, Jennifer Mullinax, Travis Gallo, Taylor Anderson

Annual Symposium on Biomathematics and Ecology Education and Research

No abstract provided.


Modeling Self-Organizing Networks In Life Sciences And Beyond, Nina H. Fefferman Nov 2025

Modeling Self-Organizing Networks In Life Sciences And Beyond, Nina H. Fefferman

Annual Symposium on Biomathematics and Ecology Education and Research

No abstract provided.


Michigan Academician Volume 50, Issue 1 Nov 2025

Michigan Academician Volume 50, Issue 1

Michigan Academician

2025 Michigan Academy Conference abstracts.


Paintings Analysis Using Copilot Ai: The Case Of Winston Churchill And Art In His Life, Yuri Zagvazdin Nov 2025

Paintings Analysis Using Copilot Ai: The Case Of Winston Churchill And Art In His Life, Yuri Zagvazdin

Learning and Educational Center Virtual Teaching and Learning Conference

The objective of this presentation is to demonstrate a method for analyzing artistic style and its potential evolution using the Copilot AI platform. As a case study, I explore the paintings of Winston Churchill (1874–1965), the British Prime Minister, who was also a passionate and prolific painter. Although Churchill began painting in his forties, he produced over 500 works, with his final piece completed in 1962.

Churchill frequently painted scenes from Southern France and Morocco—locations he returned to repeatedly throughout his artistic life. Remarkably, he continued painting even after suffering multiple cerebrovascular accidents. Stroke-induced brain damage is typically detrimental to …


Screening Of Potential Plant Growth‐Promoting Rhizobacteria (Pgpr)-Assisted Phytoremediation To Mitigate Lead Toxicity In Uae Soils, Zeinab A. Mohamed Nov 2025

Screening Of Potential Plant Growth‐Promoting Rhizobacteria (Pgpr)-Assisted Phytoremediation To Mitigate Lead Toxicity In Uae Soils, Zeinab A. Mohamed

Thesis/ Dissertation Defenses

Plant growth-promoting actinobacteria can enhance plant resilience to heavy metal contamination. This study evaluated the effects of 1-aminocyclopropane-1-carboxylate deaminase (ACCD)-producing rhizosphere-competent (RC) and non-rhizosphere-competent (NRC) actinobacterial strains on corn growth and lead (Pb) tolerance. A greenhouse experiment was conducted under Pb stress [1000 mg/kg soil as Pb(NO₃)₂] to compare the two isolates. Inoculated plants performed better than uninoculated controls, particularly in non-contaminated soils. Under Pb stress, the isolates #22 (NRC) and #30 (RC) significantly enhanced plant height, dry weight, and chlorophyll content, with RC isolate #30 exhibiting the most pronounced effects. Identified as Streptomyces mirabilis UAE2, isolate #30 reduced electrolyte …


Analysis Of An Effective Training Curriculum: Solutions Toincrease Participants' Interest In Training Teachingmaterials, Maulidya Husnul Khatimah, Yoto Yoto Nov 2025

Analysis Of An Effective Training Curriculum: Solutions Toincrease Participants' Interest In Training Teachingmaterials, Maulidya Husnul Khatimah, Yoto Yoto

Jurnal Pendidikan Sains

This research is important because it analyzes the curriculum as a primary tool for generating and maintaining participant interest. Curricula that are irrelevant, monotonous, or misaligned with participant needs are often the main causes of low motivation and participation. Furthermore, this research encourages the exploration and implementation of more innovative teaching methods and materials in training curricula. External pressure in the form of demands or instructions, rather than internal motivation, drives most training activities. This can reduce engagement and learning effectiveness. To overcome this, training institutions need to design programs that are relevant, flexible, and able to encourage participants' intrinsic …


Mechanisms Of Antibody-Mediated Protection In Severe Acute Respiratory Syndrome Coronavirus 2 Infection, Samantha Mackin Nov 2025

Mechanisms Of Antibody-Mediated Protection In Severe Acute Respiratory Syndrome Coronavirus 2 Infection, Samantha Mackin

Arts & Sciences Graduate Student Theses and Dissertations

ABSTRACT OF THE DISSERTATION Mechanisms of Antibody-Mediated Protection in Severe Acute Respiratory Syndrome Coronavirus 2 Infection by Samantha Rae Mackin Doctor of Philosophy in Biology and Biomedical Sciences Immunology Washington University in St. Louis, 2025 Professor Michael S. Diamond, Chair Coronaviruses (CoVs) are enveloped, non-segmented, positive-sense RNA viruses belonging to the Coronaviridae family. The subfamily Coronavirinae includes four genera: alpha-, beta-, gamma-, and deltacoronaviruses. While gamma- and deltacoronaviruses primarily circulate in wild or domestic birds and have shown the potential for cross-species transmission, alpha- and betacoronaviruses mainly infect mammals, resulting in respiratory illnesses that can be mild or severe. Over …


Mutational Landscape And Clinical Impact Of Spen Mutations In Patients With Chronic Lymphocytic Leukemia, Priyatharsini Nirmalanantham, Andrés E Quesada, Anindita Ghosh, Pei Lin, Chi Y Ok, Richard K Yang, Hong Fang, Sofia Garces, Rashmi Kanagal-Shamanna, Sanam Loghavi, Mark J Routbort, Cameron Cheng Yin, Wang Wei, Sarah Pasyar, Roland Bassett, Siba El Hussein, Nitin Jain, Jan Burger, William G Wierda, Sa Wang, Carlos Bueso-Ramos, Keyur P Patel, Leonard Jeffrey Medeiros, Fatima Zahra Jelloul Nov 2025

Mutational Landscape And Clinical Impact Of Spen Mutations In Patients With Chronic Lymphocytic Leukemia, Priyatharsini Nirmalanantham, Andrés E Quesada, Anindita Ghosh, Pei Lin, Chi Y Ok, Richard K Yang, Hong Fang, Sofia Garces, Rashmi Kanagal-Shamanna, Sanam Loghavi, Mark J Routbort, Cameron Cheng Yin, Wang Wei, Sarah Pasyar, Roland Bassett, Siba El Hussein, Nitin Jain, Jan Burger, William G Wierda, Sa Wang, Carlos Bueso-Ramos, Keyur P Patel, Leonard Jeffrey Medeiros, Fatima Zahra Jelloul

Faculty, Staff and Student Publications

Background/objectives: NOTCH1 is frequently mutated in chronic lymphocytic leukemia (CLL) and is a marker of poor prognosis. In addition to NOTCH1, mutations in the NOTCH1 regulatory pathway including SPEN have been described in a limited number of CLL cases and others have suggested that these mutations are also associated with adverse patient outcomes Methods: In this study, 1617 CLL cases were assessed using targeted sequencing and a 29-gene panel and the results were correlated with prognosis.

Results: SPEN mutations were detected in 48 (2.9%) CLL patients: 92.4% were deleterious (frameshift or truncating nonsense mutations) and the remaining (7.6%) were …


Distinct Tumor-Associated Macrophage Signatures Shape The Immune Microenvironment And Patient Prognosis In Renal Cell Carcinoma, Youngsoo Han, Aidan Shen, Cheng-Chi Chao, Lucas Yeung, Aliesha Garrett, Jianming Zeng, Satoru Kawakita, Jesse Wang, Zhaohui Wang, Alireza Hassani, Xiling Shen, Chongming Jiang Nov 2025

Distinct Tumor-Associated Macrophage Signatures Shape The Immune Microenvironment And Patient Prognosis In Renal Cell Carcinoma, Youngsoo Han, Aidan Shen, Cheng-Chi Chao, Lucas Yeung, Aliesha Garrett, Jianming Zeng, Satoru Kawakita, Jesse Wang, Zhaohui Wang, Alireza Hassani, Xiling Shen, Chongming Jiang

Faculty, Staff and Student Publications

Renal cell carcinoma (RCC) accounts for 90% of adult renal cancer cases and is characterized by significant heterogeneity within its tumor microenvironment. This study tests the hypothesis that tumor-associated macrophages (TAMs) influence RCC progression and patient response to treatment by investigating the prognostic implications of TAM signatures. Utilizing independent single-cell RNA sequencing data from RCC patients, we developed eight distinct TAM signatures reflective of TAM presence. A LASSO Cox regression model was constructed to predict survival outcomes, evaluated using the TCGA dataset, and validated across independent RCC cohorts. Model performance was assessed through Kaplan-Meier survival plots, receiver operating characteristic (ROC) …


Distinguishing Syndromic And Nonsyndromic Cleft Palate Through Analysis Of Protein-Altering De Novo Variants In 818 Trios, Kelsey R Robinson, Sarah W Curtis, Justin E Paschall, Wasiu Lanre Adeyemo, Terri H Beaty, Azeez Butali, Carmen J Buxó, David J Cutler, Michael P Epstein, Lord J J Gowans, Jacqueline T Hecht, Gary M Shaw, Lina Moreno Uribe, Jeffrey C Murray, Harrison Brand, Seth M Weinberg, Mary L Marazita, Kimberly F Doheny, Elizabeth J Leslie-Clarkson Nov 2025

Distinguishing Syndromic And Nonsyndromic Cleft Palate Through Analysis Of Protein-Altering De Novo Variants In 818 Trios, Kelsey R Robinson, Sarah W Curtis, Justin E Paschall, Wasiu Lanre Adeyemo, Terri H Beaty, Azeez Butali, Carmen J Buxó, David J Cutler, Michael P Epstein, Lord J J Gowans, Jacqueline T Hecht, Gary M Shaw, Lina Moreno Uribe, Jeffrey C Murray, Harrison Brand, Seth M Weinberg, Mary L Marazita, Kimberly F Doheny, Elizabeth J Leslie-Clarkson

Faculty, Staff and Student Publications

De novo variants (DNs) are sporadically occurring variants found in an offspring but absent in both parents. DNs most commonly arise in the germline and are not under selective pressure; therefore, they may be enriched for disease-causing alleles. In fact, DNs have been implicated in multiple rare genetic disorders. Cleft palate (CP) is a craniofacial congenital anomaly occurring in ∼1 in 1,700 live births. Genome-wide association studies have found fewer than a dozen CP-specific loci, while exome and targeted sequencing studies in family-based and case-control cohorts often lack statistical power to conclusively identify causal variants. We therefore hypothesized that CP …


Compadre: Combined Pedigree-Aware Distant Relatedness Estimation For Improved Pedigree Reconstruction, Grahame F Evans, James T Baker, Lauren E Petty, Alexander S Petty, Hannah G Polikowsky, Ryan J Bohlender, Hung-Hsin Chen, Che-Yu Chou, Kathryn Z Viljoen, Janet M Beilby, Shelly Jo Kraft, Wanying Zhu, Joshua M Landman, Autumn R Morrow, Dayi Bian, Alyssa C Scartozzi, Chad D Huff, Jennifer E Below Nov 2025

Compadre: Combined Pedigree-Aware Distant Relatedness Estimation For Improved Pedigree Reconstruction, Grahame F Evans, James T Baker, Lauren E Petty, Alexander S Petty, Hannah G Polikowsky, Ryan J Bohlender, Hung-Hsin Chen, Che-Yu Chou, Kathryn Z Viljoen, Janet M Beilby, Shelly Jo Kraft, Wanying Zhu, Joshua M Landman, Autumn R Morrow, Dayi Bian, Alyssa C Scartozzi, Chad D Huff, Jennifer E Below

Faculty, Staff and Student Publications

Designing powerful and unbiased genomic studies requires accurate assessment of familial relatedness even when this information is not captured from participants. Characterization of pairwise degrees of relatedness from participants' genetic data enables reconstruction of pedigrees, and several pedigree reconstruction tools have emerged in the last decade. However, limitations of these tools include high computational burden in large datasets, reliance on external information, reduced accuracy in admixed populations, and most notably, an inability to accurately reconstruct pedigrees when only a subset of family members is represented in the genetic data. To improve pedigree reconstruction in large-scale data and in pedigrees with …