Wendy K Chung

FaceKit: أداة لتوصيف الملامح الوجهية القابلة للتفسير وتوليد الصور الاصطناعية وتحليل الخصوصية في الأمراض النادرة

Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes

Boston Children's Hospital has established a genomic sequencing and analysis research initiative to improve clinical care for pediatric rare disease patients. Through the Children's Rare Disease Collaborative (CRDC), the hospital offers CLIA-grade exome and genome sequencing, along with other sequencing types, to patie …

Rare predicted loss of function alleles in Bassoon (BSN) are associated with obesity

Bassoon (BSN) is a component of a hetero-dimeric presynaptic cytomatrix protein that orchestrates neurotransmitter release with Piccolo (PCLO) from glutamatergic neurons throughout the brain. Heterozygous missense variants in BSN have previously been associated with neurodegenerative disorders in humans. We performed a …

Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes

Abstract Autism spectrum disorder (ASD) is a genetically heterogeneous condition, caused by a combination of rare de novo and inherited variants as well as common variants in at least several hundred genes. However, significantly larger sample sizes are needed to identify the complete set of genetic risk factors. We co …

A phenome-wide association study to discover pleiotropic effects of PCSK9, APOB, and LDLR

Abstract We conducted an electronic health record (EHR)-based phenome-wide association study (PheWAS) to discover pleiotropic effects of variants in three lipoprotein metabolism genesPCSK9,APOB, andLDLR. Using high-density genotype data, we tested the associations of variants in the three genes with 1232 EHR-derived bi …