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Applications Of Machine Learning-Driven Molecular Models For Advancing Ophthalmic Precision Medicine, Rahul Kumar, Joshua Ong, Ethan Waisberg, Ryung Lee, Tuan Nguyen, Phani Paladugu, Maria C. Rivolta, Chirag Gowda, John V. Janin, Jeremy Saintyl, Dylan Amiri, Ansh Gosain, Ram Jagadeesan Feb 2025

Applications Of Machine Learning-Driven Molecular Models For Advancing Ophthalmic Precision Medicine, Rahul Kumar, Joshua Ong, Ethan Waisberg, Ryung Lee, Tuan Nguyen, Phani Paladugu, Maria C. Rivolta, Chirag Gowda, John V. Janin, Jeremy Saintyl, Dylan Amiri, Ansh Gosain, Ram Jagadeesan

SKMC Student Presentations and Publications

Ophthalmic diseases such as glaucoma, age-related macular degeneration (ARMD), and optic neuritis involve complex molecular and cellular disruptions that challenge current diagnostic and therapeutic approaches. Advanced artificial intelligence (AI) and machine learning (ML) models offer a novel lens to analyze these diseases by integrating diverse datasets, identifying patterns, and enabling precision medicine strategies. Over the past decade, applications of AI in ophthalmology have expanded from imaging-based diagnostics to molecular-level modeling, bridging critical gaps in understanding disease mechanisms. This paper systematically reviews the application of AI-driven methods, including reinforcement learning (RL), graph neural networks (GNNs), Bayesian inference, and generative adversarial networks …


Sc Packet, Extension Feb 2025

Sc Packet, Extension

UNH Cooperative Extension

No abstract provided.


Sullivan County Demonstration Guide, Extension Feb 2025

Sullivan County Demonstration Guide, Extension

UNH Cooperative Extension

No abstract provided.


Characterizing Features Affecting Local Ancestry Inference Performance In Admixed Populations, Clement C Zai, Sintia Belangero, Caroline M Nievergelt, Marcos Santoro, Elizabeth G Atkinson Feb 2025

Characterizing Features Affecting Local Ancestry Inference Performance In Admixed Populations, Clement C Zai, Sintia Belangero, Caroline M Nievergelt, Marcos Santoro, Elizabeth G Atkinson

Faculty, Staff and Students Publications

In recent years, significant efforts have been made to improve methods for genomic studies of admixed populations using local ancestry inference (LAI). Accurate LAI is crucial to ensure that downstream analyses accurately reflect the genetic ancestry of research participants. Here, we test analytic strategies for LAI to provide guidelines for optimal accuracy, focusing on admixed populations reflective of Latin America's primary continental ancestries-African (AFR), Amerindigenous (AMR), and European (EUR). Simulating linkage-disequilibrium-informed admixed haplotypes under a variety of 2- and 3-way admixture models, we implemented a standard LAI pipeline, testing the impact of reference panel composition, DNA data type, demography, and …


Bi-Allelic Kics2 Mutations Impair Kicstor Complex-Mediated Mtorc1 Regulation, Causing Intellectual Disability And Epilepsy, Linda Sofan, Timo Roser, Kirsten Cremer, Javeria Raza Alvi, Stephanie Efthymiou, Tawfiq Froukh, Sughra Gulieva, Ulviyya Guliyeva, Moath Hamdallah, Muriel Holder-Espinasse, Rauan Kaiyrzhanov, Doreen Klingler, Mahmoud Koko, Lars Matthies, Joohyun Park, Marc Sturm, Ana Velic, Stephanie Spranger, Tipu Sultan, Hartmut Engels, Holger Lerche, Henry Houlden, Alistair T Pagnamenta, Ingo Borggraefe, Yvonne Weber, Penelope E Bonnen, Reza Maroofian, Olaf Riess, Jonasz J Weber, Melanie Philipp, Tobias B Haack Feb 2025

Bi-Allelic Kics2 Mutations Impair Kicstor Complex-Mediated Mtorc1 Regulation, Causing Intellectual Disability And Epilepsy, Linda Sofan, Timo Roser, Kirsten Cremer, Javeria Raza Alvi, Stephanie Efthymiou, Tawfiq Froukh, Sughra Gulieva, Ulviyya Guliyeva, Moath Hamdallah, Muriel Holder-Espinasse, Rauan Kaiyrzhanov, Doreen Klingler, Mahmoud Koko, Lars Matthies, Joohyun Park, Marc Sturm, Ana Velic, Stephanie Spranger, Tipu Sultan, Hartmut Engels, Holger Lerche, Henry Houlden, Alistair T Pagnamenta, Ingo Borggraefe, Yvonne Weber, Penelope E Bonnen, Reza Maroofian, Olaf Riess, Jonasz J Weber, Melanie Philipp, Tobias B Haack

Faculty, Staff and Students Publications

Nutrient-dependent mTORC1 regulation upon amino acid deprivation is mediated by the KICSTOR complex, comprising SZT2, KPTN, ITFG2, and KICS2, recruiting GATOR1 to lysosomes. Previously, pathogenic SZT2 and KPTN variants have been associated with autosomal recessive intellectual disability and epileptic encephalopathy. We identified bi-allelic KICS2 variants in eleven affected individuals presenting with intellectual disability and epilepsy. These variants partly affected KICS2 stability, compromised KICSTOR complex formation, and demonstrated a deleterious impact on nutrient-dependent mTORC1 regulation of 4EBP1 and S6K. Phosphoproteome analyses extended these findings to show that KICS2 variants changed the mTORC1 proteome, affecting proteins that function in translation, splicing, and …


Dna-Binding Affinity And Specificity Determine The Phenotypic Diversity In Bcl11b-Related Disorders, Jonathan May, Anu Goenka, Kate E Chandler, Jennifer E Posey, Alexandra Afenjar, Luisa Averdunk, Maria Francesca Bedeschi, Thomas Besnard, Rae Brager, Lauren Brick, Melanie Brugger, Theresa Brunet, Susan Byrne, Oscar De La Calle-Martín, Valeria Capra, Paul Cardenas, Céline Chappé, Hey J Chong, Benjamin Cogne, Erin Conboy, Heidi Cope, Thomas Courtin, Wallid Deb, Robertino Dilena, Christèle Dubourg, Magdeldin Elgizouli, Erica Fernandes, Kristi K Fitzgerald, Silvana Gangi, Jaya K George-Abraham, Muge Gucsavas-Calikoglu, Tobias B Haack, Medard Hadonou, Britta Hanker, Irina Hüning, Maria Iascone, Bertrand Isidor, Irma Järvelä, Jay J Jin, Alexander A L Jorge, Dragana Josifova, Ruta Kalinauskiene, Erik-Jan Kamsteeg, Boris Keren, Elena Kessler, Heike Kölbel, Mariya Kozenko, Christian Kubisch, Alma Kuechler, Suzanne M Leal, Juha Leppälä, Sharon M Luu, Gholson J Lyon, Suneeta Madan-Khetarpal, Margherita Mancardi, Elaine Marchi, Lakshmi Mehta, Beatriz Menendez, Chantal F Morel, Sue Moyer Harasink, Dayna-Lynn Nevay, Vincenzo Nigro, Sylvie Odent, Renske Oegema, John Pappas, Matthew T Pastore, Yezmin Perilla-Young, Konrad Platzer, Nina Powell-Hamilton, Rachel Rabin, Aisha Rekab, Raissa C Rezende, Leema Robert, Ferruccio Romano, Marcello Scala, Karin Poths, Isabelle Schrauwen, Jessica Sebastian, John Short, Richard Sidlow, Jennifer Sullivan, Katalin Szakszon, Queenie K G Tan, Undiagnosed Diseases Network, Matias Wagner, Dagmar Wieczorek, Bo Yuan, Nicole Maeding, Dirk Strunk, Amber Begtrup, Siddharth Banka, James R Lupski, Eva Tolosa, Davor Lessel Feb 2025

Dna-Binding Affinity And Specificity Determine The Phenotypic Diversity In Bcl11b-Related Disorders, Jonathan May, Anu Goenka, Kate E Chandler, Jennifer E Posey, Alexandra Afenjar, Luisa Averdunk, Maria Francesca Bedeschi, Thomas Besnard, Rae Brager, Lauren Brick, Melanie Brugger, Theresa Brunet, Susan Byrne, Oscar De La Calle-Martín, Valeria Capra, Paul Cardenas, Céline Chappé, Hey J Chong, Benjamin Cogne, Erin Conboy, Heidi Cope, Thomas Courtin, Wallid Deb, Robertino Dilena, Christèle Dubourg, Magdeldin Elgizouli, Erica Fernandes, Kristi K Fitzgerald, Silvana Gangi, Jaya K George-Abraham, Muge Gucsavas-Calikoglu, Tobias B Haack, Medard Hadonou, Britta Hanker, Irina Hüning, Maria Iascone, Bertrand Isidor, Irma Järvelä, Jay J Jin, Alexander A L Jorge, Dragana Josifova, Ruta Kalinauskiene, Erik-Jan Kamsteeg, Boris Keren, Elena Kessler, Heike Kölbel, Mariya Kozenko, Christian Kubisch, Alma Kuechler, Suzanne M Leal, Juha Leppälä, Sharon M Luu, Gholson J Lyon, Suneeta Madan-Khetarpal, Margherita Mancardi, Elaine Marchi, Lakshmi Mehta, Beatriz Menendez, Chantal F Morel, Sue Moyer Harasink, Dayna-Lynn Nevay, Vincenzo Nigro, Sylvie Odent, Renske Oegema, John Pappas, Matthew T Pastore, Yezmin Perilla-Young, Konrad Platzer, Nina Powell-Hamilton, Rachel Rabin, Aisha Rekab, Raissa C Rezende, Leema Robert, Ferruccio Romano, Marcello Scala, Karin Poths, Isabelle Schrauwen, Jessica Sebastian, John Short, Richard Sidlow, Jennifer Sullivan, Katalin Szakszon, Queenie K G Tan, Undiagnosed Diseases Network, Matias Wagner, Dagmar Wieczorek, Bo Yuan, Nicole Maeding, Dirk Strunk, Amber Begtrup, Siddharth Banka, James R Lupski, Eva Tolosa, Davor Lessel

Faculty, Staff and Students Publications

BCL11B is a Cys2-His2 zinc-finger (C2H2-ZnF) domain-containing, DNA-binding, transcription factor with established roles in the development of various organs and tissues, primarily the immune and nervous systems. BCL11B germline variants have been associated with a variety of developmental syndromes. However, genotype-phenotype correlations along with pathophysiologic mechanisms of selected variants mostly remain elusive. To dissect these, we performed genotype-phenotype correlations of 92 affected individuals harboring a pathogenic or likely pathogenic BCL11B variant, followed by immune phenotyping, analysis of chromatin immunoprecipitation DNA-sequencing data, dual-luciferase reporter assays, and molecular modeling. These integrative analyses enabled us to define three clinical subtypes of BCL11B-related disorders. …


Design And Implementation Of An Action Plan For Justice, Equity, Diversity, And Inclusion Within The Clinical Genome Resource, Jonathan S Berg, Joanna E Bulkley, Mildred Cho, Claudia Gonzaga-Jauregui, Teri E Klein, Daphne O Martschenko, Akinyemi Oni-Orisan, Erin M Ramos, Heidi L Rehm, Erin R Riggs, Matthew W Wright, Michael Yudell, Sharon E Plon, Joannella Morales Feb 2025

Design And Implementation Of An Action Plan For Justice, Equity, Diversity, And Inclusion Within The Clinical Genome Resource, Jonathan S Berg, Joanna E Bulkley, Mildred Cho, Claudia Gonzaga-Jauregui, Teri E Klein, Daphne O Martschenko, Akinyemi Oni-Orisan, Erin M Ramos, Heidi L Rehm, Erin R Riggs, Matthew W Wright, Michael Yudell, Sharon E Plon, Joannella Morales

Faculty, Staff and Students Publications

How might members of a large, multi-institutional research and resource consortium foster justice, equity, diversity, and inclusion as central to its mission, goals, governance, and culture? These four principles, often referred to as JEDI, can be aspirational-but to be operationalized, they must be supported by concrete actions, investments, and a persistent long-term commitment to the principles themselves, which often requires self-reflection and course correction. We present here the iterative design process implemented across the Clinical Genome Resource (ClinGen) that led to the development of an action plan to operationalize JEDI principles across three major domains, with specific deliverables and commitments …


Characterizing Features Affecting Local Ancestry Inference Performance In Admixed Populations, Clement C Zai, Sintia Belangero, Caroline M Nievergelt, Marcos Santoro, Elizabeth G Atkinson Feb 2025

Characterizing Features Affecting Local Ancestry Inference Performance In Admixed Populations, Clement C Zai, Sintia Belangero, Caroline M Nievergelt, Marcos Santoro, Elizabeth G Atkinson

Faculty, Staff and Students Publications

In recent years, significant efforts have been made to improve methods for genomic studies of admixed populations using local ancestry inference (LAI). Accurate LAI is crucial to ensure that downstream analyses accurately reflect the genetic ancestry of research participants. Here, we test analytic strategies for LAI to provide guidelines for optimal accuracy, focusing on admixed populations reflective of Latin America's primary continental ancestries-African (AFR), Amerindigenous (AMR), and European (EUR). Simulating linkage-disequilibrium-informed admixed haplotypes under a variety of 2- and 3-way admixture models, we implemented a standard LAI pipeline, testing the impact of reference panel composition, DNA data type, demography, and …


Bio-Primed Machine Learning To Enhance Discovery Of Relevant Biomarkers, Jitendra K Meena, Nicholas J Neill, Elizabeth A Bowling, Kristen L Meerbrey, Thomas F Westbrook, Lukas M Simon Feb 2025

Bio-Primed Machine Learning To Enhance Discovery Of Relevant Biomarkers, Jitendra K Meena, Nicholas J Neill, Elizabeth A Bowling, Kristen L Meerbrey, Thomas F Westbrook, Lukas M Simon

Faculty, Staff and Students Publications

Precision medicine relies on identifying reliable biomarkers for gene dependencies to tailor individualized therapeutic strategies. The advent of high-throughput technologies presents unprecedented opportunities to explore molecular disease mechanisms but also challenges due to high dimensionality and collinearity among features. Traditional statistical methods often fall short in this context, necessitating novel computational approaches that harness the full potential of big data in bioinformatics. Here, we introduce a novel machine learning approach extending the Least Absolute Shrinkage and Selection Operator (LASSO) regression framework to incorporate biological knowledge, such as protein-protein interaction databases, into the regularization process. This bio-primed approach prioritizes variables that …


Is Fibroblast Growth Factor (Fgf)23 A Player Or A Trigger In Atrial Fibrillation? Feb 2025

Is Fibroblast Growth Factor (Fgf)23 A Player Or A Trigger In Atrial Fibrillation?

Faculty, Staff and Students Publications

No abstract provided.


Populating A Content Feed Based On A Hotness Score, Yongzhe Wang Feb 2025

Populating A Content Feed Based On A Hotness Score, Yongzhe Wang

Defensive Publications Series

Content sharing platforms typically populate content feeds with media items that are determined to be currently relevant or “fresh.” This allows the content sharing platforms to prioritize newer content for users. However, content sharing platforms typically fail to consider the “hotness” or popularity of media items. This disclosure relates to populating a content feed using a hotness score. The hotness score can be used to indicate a media item’s popularity, engagement, and/or relevance. The hotness score can be used in addition to other scores, such as freshness scores, or instead of one or more of these scores.


User Identity Microphone Control In Virtual Meetings, Dongeek Shin Feb 2025

User Identity Microphone Control In Virtual Meetings, Dongeek Shin

Defensive Publications Series

A virtual meeting platform can determine whether to enable a participant’s microphone by determining a reference embedding for first-received participant voice data; determining a current embedding for second-received participant voice data; determining whether a difference between the reference embedding and the current embedding satisfies a distance threshold; and responsive to determining the difference between the reference embedding and the current embedding satisfies the distance threshold, instructing the participant’s client device to enable the participant’s microphone.


Dynamic Camera Resolution And Frame Rate Based On Meeting Status, Hp Inc Feb 2025

Dynamic Camera Resolution And Frame Rate Based On Meeting Status, Hp Inc

Defensive Publications Series

The high system power consumption during video call. The camera consumes more power when high resolution and high frame rate during video call. We provide a Dynamic Camera Resolution and Frame Rate based on Meeting Status (DCRFR). The camera resolution and frame rate will change dynamically based on meeting status. For example, the lower camera resolution and frame rate when share screen. The camera video is smaller when share screen. The attendance will be focus on sharing screen, not camera video. It can reduce power consumption by lower resolution and frame rate. It can reduce user experience impact and extend …


Automatic Summarization And/Or Explanation Of Group-Specific Content During A Virtual Meeting, Siddharth Awasthi, Jayant Tamarapalli Feb 2025

Automatic Summarization And/Or Explanation Of Group-Specific Content During A Virtual Meeting, Siddharth Awasthi, Jayant Tamarapalli

Defensive Publications Series

A technique is proposed for automatic summarization and/or explanation of group-specific content during a virtual meeting. A set of electronic documents associated with at least one participant of a virtual meeting is obtained. The participant is associated with a group or a team. Content that is specific to the group or the team associated with the participant is identified in the set of electronic documents. During the virtual meeting, a reference by one or more participants to the content that is specific to the group or the team is detected. A summary and/or explanation of the referenced content is generated …


Concurrently Viewing And Interacting With Different Security-Related Data By Using Sub-Windows In A User Interface Of A Data Analytics Platform, Spencer Lichtenstein, Abu Wawda, Davide Schiera, Winnie Chai Feb 2025

Concurrently Viewing And Interacting With Different Security-Related Data By Using Sub-Windows In A User Interface Of A Data Analytics Platform, Spencer Lichtenstein, Abu Wawda, Davide Schiera, Winnie Chai

Defensive Publications Series

A system for providing a system capable of concurrently viewing and interacting with different security-related data by using sub-windows in a user interface of a data analytics platform. In response to a query for a certain entity, the data analytics can obtain, from one or more computing resources, one or more different types of security-related data. Each type of security-related data can be presented in a respective sub-window on the user interface.


From Apology To Utopia…To Apology? Kunal Sahaasa Vindication Of The Normative Equilibrium Of Tort Law, Srinivas Raman Feb 2025

From Apology To Utopia…To Apology? Kunal Sahaasa Vindication Of The Normative Equilibrium Of Tort Law, Srinivas Raman

Journal of Law and Public Policy

No abstract provided.


South Delhi Municipal Corporation V. Radhey Shyam (Manu/De/2076/2014), Badrinath Srinivasan, Smitha Poovani Feb 2025

South Delhi Municipal Corporation V. Radhey Shyam (Manu/De/2076/2014), Badrinath Srinivasan, Smitha Poovani

Journal of Law and Public Policy

No abstract provided.


The Line Of Resistance: Examining Decentralised Decision Making Through Pesa Act In The Vedanta Case, Niyamgiri, Ks Deepa Feb 2025

The Line Of Resistance: Examining Decentralised Decision Making Through Pesa Act In The Vedanta Case, Niyamgiri, Ks Deepa

Journal of Law and Public Policy

No abstract provided.


Evolution Of Commercial Tribunals With Special Reference To Company Law Tribunal In The Light Of R Gandhi’S Case, Ak Febin Feb 2025

Evolution Of Commercial Tribunals With Special Reference To Company Law Tribunal In The Light Of R Gandhi’S Case, Ak Febin

Journal of Law and Public Policy

No abstract provided.


Conflicts Between Foreign Investment And Environment Protection: Examining The Role Of Bilateral Investment Treaties, Sumit Sonkar Feb 2025

Conflicts Between Foreign Investment And Environment Protection: Examining The Role Of Bilateral Investment Treaties, Sumit Sonkar

Journal of Law and Public Policy

No abstract provided.


Justice Promised But Undelivered: A Critique On Enslavement Through Debt Bondage In India, S Anuja Feb 2025

Justice Promised But Undelivered: A Critique On Enslavement Through Debt Bondage In India, S Anuja

Journal of Law and Public Policy

No abstract provided.


Conformity Of Goods To The Contract Of Sale Under The Ohada Uniform Act On General Commercial Law: A Critical Analysis And Appraisal, Roland Djieufack Feb 2025

Conformity Of Goods To The Contract Of Sale Under The Ohada Uniform Act On General Commercial Law: A Critical Analysis And Appraisal, Roland Djieufack

Journal of Law and Public Policy

No abstract provided.


Power Of The President Of India To Grant Sanction Of Prosecution Against The Prime Minister, Lokendra Malik Feb 2025

Power Of The President Of India To Grant Sanction Of Prosecution Against The Prime Minister, Lokendra Malik

Journal of Law and Public Policy

No abstract provided.


Socio-Economic Rights (Ser) In India: Responses During Economic Crisis, Uday Shankar Feb 2025

Socio-Economic Rights (Ser) In India: Responses During Economic Crisis, Uday Shankar

Journal of Law and Public Policy

No abstract provided.


Ecosystem Analysis Of India’S Corporate Governance Practices: Gaps And Opportunities, Raymond Keng Wan Feb 2025

Ecosystem Analysis Of India’S Corporate Governance Practices: Gaps And Opportunities, Raymond Keng Wan

Journal of Law and Public Policy

No abstract provided.


International Human Rights Perspectives On The Protection Of Genetic Information: Exploring The Scope And Impact Of The Current United Nations Framework, Aisling De Paor Feb 2025

International Human Rights Perspectives On The Protection Of Genetic Information: Exploring The Scope And Impact Of The Current United Nations Framework, Aisling De Paor

Journal of Law and Public Policy

No abstract provided.


Consumer Welfare In Banks' Lending, K Vidyullatha Reddy Feb 2025

Consumer Welfare In Banks' Lending, K Vidyullatha Reddy

Journal of Law and Public Policy

No abstract provided.


Editorial Feb 2025

Editorial

Journal of Law and Public Policy

No abstract provided.


Full Issue Feb 2025

Full Issue

Journal of Law and Public Policy

No abstract provided.


Information Literacy Capability Of Preschool Teachers In An Effort To Improve The Pedagogical Competence Of Preschool Teachers In Central Lampung District, Purwanto Putra, Andi Windah, Arnila Purnamayanti Feb 2025

Information Literacy Capability Of Preschool Teachers In An Effort To Improve The Pedagogical Competence Of Preschool Teachers In Central Lampung District, Purwanto Putra, Andi Windah, Arnila Purnamayanti

Jurnal Sosial Humaniora Terapan

The title of the proposed research is "Information Literacy Skills of Early Childhood Education (ECE) Teachers in Efforts to Enhance Pedagogical Competence of ECE Teachers in Central Lampung Regency." This research aims to explore the information literacy skills of ECE teachers in the Central Lampung Regency, Lampung Province, using the ACRL (Association of College & Research Libraries) standards, and to understand how ECE teachers can meet the demands to improve their professional competence in line with current technological and informational developments. The research adopts a qualitative case study approach with a mixed methods methodology (interviews, observations, and surveys). The research …