Explanipedia

Deleterious coding variation associated with autism is consistent across populations, as exemplified by admixed Latin American populations Open

Marina Natividad Avila, Seulgi Jung, F. Kyle Satterstrom, Jack Fu, Tess Levy , et al. · 2025

The past decade has seen remarkable progress in identifying genes that, when impacted by deleterious coding variation, confer high risk for autism spectrum disorder (ASD), intellectual disability, and other developmental disorders. However…

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes Open

Siwei Chen, Bassel Abou‐Khalil, Zaid Afawi, Quratulain Zulfiqar Ali, Elisabetta Amadori , et al. · 2024

Principled distillation of UK Biobank phenotype data reveals underlying structure in human variation Open

Caitlin E. Carey, Rebecca Shafee, Robbee Wedow, Amanda Elliott, Duncan S. Palmer , et al. · 2024

Pan-UK Biobank GWAS improves discovery, analysis of genetic architecture, and resolution into ancestry-enriched effects Open

Konrad J. Karczewski, Rahul Gupta, Masahiro Kanai, Wenhan Lu, Kristin Tsuo , et al. · 2024

Summary Large biobanks, such as the UK Biobank (UKB), enable massive phenome by genome-wide association studies that elucidate genetic etiology of complex traits. However, individuals from diverse genetic ancestry groups are often excluded…

O11: An atlas of 1.2M structural variants across global populations in the Genome Aggregation Database (gnomAD) Open

Harrison Brand, Xuefang Zhao, Jack Fu, Ryan L. Collins, Isaac Wong , et al. · 2024

Structural variants (SVs) are an important class of variation that contribute to the diversity of each human genome and a major component of the genetic architecture of human traits and disease. Unfortunately, the field of human genetics h…

O43: Analysis of >800,000 diverse sequenced humans in gnomAD improves clinical interpretation and provides insight into gene function Open

Heidi L. Rehm, Julia K. Goodrich, Katherine R. Chao, Kristen M. Laricchia, Michael W. Wilson , et al. · 2024

The Genome Aggregation Database (gnomAD) is a publicly available large-scale aggregate dataset of human genetic variation, which currently fuels both research and clinical diagnostic pipelines worldwide. In November 2023, we launched gnomA…

High-Resolution and Noninvasive Fetal Exome Screening Open

Harrison Brand, Christopher W. Whelan, Michael Duyzend, John Lemanski, Monica Salani , et al. · 2023

GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture Open

Remi Stevelink, Ciarán Campbell, Siwei Chen, Bassel Abou‐Khalil, Oluyomi M. Adesoji , et al. · 2023

Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals Open

Ludovica Montanucci, David Lewis‐Smith, Ryan L. Collins, Lisa‐Marie Niestroj, Shridhar Parthasarathy , et al. · 2023

Copy number variants (CNV) are established risk factors for neurodevelopmental disorders with seizures or epilepsy. With the hypothesis that seizure disorders share genetic risk factors, we pooled CNV data from 10,590 individuals with seiz…

O39: Comprehensive, high-resolution, and non-invasive prenatal screening of coding variation* Open

Michael Duyzend, Harrison Brand, Christopher T. Whelan, John Lemanski, Monica Salani , et al. · 2023

Principled distillation of multidimensional UK Biobank data reveals insights into the correlated human phenome Open

Caitlin E. Carey, Rebecca Shafee, Amanda Elliott, Duncan S. Palmer, John Compitello , et al. · 2022

Broad yet detailed data collected in biobanks captures variation reflective of human health and behavior, but insights are hard to extract given their complexity and scale. In the largest factor analysis to date, we distill hundreds of med…

Rare coding variation provides insight into the genetic architecture and phenotypic context of autism Open

Jack Fu, F. Kyle Satterstrom, Minshi Peng, Harrison Brand, Ryan L. Collins , et al. · 2022

Rare coding variants in ten genes confer substantial risk for schizophrenia Open

Tarjinder Singh, Timothy Poterba, David Curtis, Huda Akil, Mariam Al Eissa , et al. · 2022

Rare coding variation illuminates the allelic architecture, risk genes, cellular expression patterns, and phenotypic context of autism Open

Jack Fu, F. Kyle Satterstrom, Minshi Peng, Harrison Brand, Ryan L. Collins , et al. · 2021

Individuals with autism spectrum disorder (ASD) or related neurodevelopmental disorders (NDDs) often carry disruptive mutations in genes that are depleted of functional variation in the broader population. We build upon this observation an…

Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals Open

Joshua E. Motelow, Gundula Povysil, Ryan S. Dhindsa, Kate E. Stanley, Andrew S. Allen , et al. · 2021

Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals Open

Joshua E. Motelow, Gundula Povysil, Ryan S. Dhindsa, Kate E. Stanley, Andrew S. Allen , et al. · 2021

Coping with COVID-19: Longitudinal Impact of the Pandemic on Adjustment and Links with Coping for Adolescents with and without ADHD Open

Melissa R. Dvorsky, Rosanna Breaux, Caroline Cusick, Joseph Fredrick, Cathrin D. Green , et al. · 2021

Understanding factors that foster resilience and buffer against the negative psychological impact of COVID-19 is critical to inform efforts to promote adjustment, reduce risk, and improve care, particularly for adolescents with neurodevelo…

Prospective Examination of Adolescent Sleep Patterns and Behaviors Before and During COVID-19 Open

Stephen P. Becker, Melissa R. Dvorsky, Rosanna Breaux, Caroline Cusick, Katherine A. Taylor , et al. · 2021

Study Objectives: To prospectively examine changes in adolescent sleep before and during the COVID-19 pandemic in adolescents with and without ADHD. Methods: Participants were 122 adolescents (ages 15-17; 61% male; 48% with ADHD). Parents …

Author Correction: A structural variation reference for medical and population genetics Open

Ryan L. Collins, Harrison Brand, Konrad J. Karczewski, Xuefang Zhao, Jessica Alföldi , et al. · 2021

Phylogenetic analysis of SARS-CoV-2 in Boston highlights the impact of superspreading events Open

Jacob E. Lemieux, Katherine J. Siddle, Bennett Shaw, Christine Loreth, S. F. Schaffner , et al. · 2020

Phylogenetics of superspreading One important characteristic of coronavirus epidemiology is the occurrence of superspreading events. These are marked by a disproportionate number of cases originating from often-times asymptomatic individua…

Phylogenetic analysis of SARS-CoV-2 in the Boston area highlights the role of recurrent importation and superspreading events Open

Jacob E. Lemieux, Katherine J. Siddle, Bennett Shaw, Christine Loreth, S. F. Schaffner , et al. · 2020

SARS-CoV-2 has caused a severe, ongoing outbreak of COVID-19 in Massachusetts with 111,070 confirmed cases and 8,433 deaths as of August 1, 2020. To investigate the introduction, spread, and epidemiology of COVID-19 in the Boston area, we …

A structural variation reference for medical and population genetics Open

Ryan L. Collins, Harrison Brand, Konrad J. Karczewski, Xuefang Zhao, Jessica Alföldi , et al. · 2020

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