Eli A. Stahl
- Genetic Associations and Epidemiology
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Bipolar Disorder and Treatment
- Bioinformatics and Genomic Networks
- Systemic Lupus Erythematosus Research
- Gout, Hyperuricemia, Uric Acid
- Genetic Mapping and Diversity in Plants and Animals
- Chronic Lymphocytic Leukemia Research
- Genetic Syndromes and Imprinting
- Epigenetics and DNA Methylation
- Rheumatoid Arthritis Research and Therapies
- Genetic and phenotypic traits in livestock
- Adolescent and Pediatric Healthcare
- RNA Research and Splicing
- Lymphoma Diagnosis and Treatment
- Suicide and Self-Harm Studies
- BRCA gene mutations in cancer
- Autism Spectrum Disorder Research
- Congenital heart defects research
- Health, Environment, Cognitive Aging
- Cognitive Abilities and Testing
- Genetic diversity and population structure
- Monoclonal and Polyclonal Antibodies Research
Broad Institute
2014-2025
University of Vermont
2024
Icahn School of Medicine at Mount Sinai
2015-2024
Regeneron (United States)
2020-2024
University of Utah
2023
Virginia Commonwealth University
2019-2023
Huntsman (United States)
2023
California University of Pennsylvania
2023
University of Bristol
2012-2023
Durham VA Health Care System
2022
Abstract Scalable, integrative methods to understand mechanisms that link genetic variants with phenotypes are needed. Here we derive a mathematical expression compute PrediXcan (a gene mapping approach) results using summary data (S-PrediXcan) and show its accuracy general robustness misspecified reference sets. We apply this framework 44 GTEx tissues 100+ from GWAS meta-analysis studies, creating growing public catalog of associations seeks capture the effects variation on human...
Abstract A major goal in human genetics is to use natural variation understand the phenotypic consequences of altering each protein-coding gene genome. Here we used exome sequencing 1 explore protein-altering variants and their 454,787 participants UK Biobank study 2 . We identified 12 million coding variants, including around loss-of-function 1.8 deleterious missense variants. When these were tested for association with 3,994 health-related traits, found 564 genes trait associations at P ≤...