The Penn Medicine BioBank: Towards a Genomics-Enabled Learning Healthcare System to Accelerate Precision Medicine in a Diverse Population

Cytomegalovirus latent infection is associated with an increased risk of COVID-19-related hospitalization

(2022) Cécile Alanio et al.   JOURNAL OF INFECTIOUS DISEASES

Genetic regulation of OAS1 nonsense-mediated decay underlies association with COVID-19 hospitalization in patients of European and African ancestries

(2022) A. Rouf Banday et al.   NATURE GENETICS

Impact of natural selection on global patterns of genetic variation and association with clinical phenotypes at genes involved in SARS-CoV-2 infection

(2022) Chao Zhang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Impact of integrating genomic data into the electronic health record on genetics care delivery

(2022) Kelsey S. Lau-Min et al.   GENETICS IN MEDICINE

Mendelian pathway analysis of laboratory traits reveals distinct roles for ciliary subcompartments in common disease pathogenesis

(2021) Theodore George Drivas et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Seasonal human coronavirus antibodies are boosted upon SARS-CoV-2 infection but not associated with protection

(2021) Elizabeth M. Anderson et al.   CELL

A genome-first approach to rare variants in hypertrophic cardiomyopathy genes MYBPC3 and MYH7 in a medical biobank

(2021) Joseph Park et al.   HUMAN MOLECULAR GENETICS

Genetic liability for substance use associated with medical comorbidities in electronic health records of African‐ and European‐ancestry individuals

(2021) Emily E. Hartwell et al.   ADDICTION BIOLOGY

Performance of polygenic risk scores for cancer prediction in a racially diverse academic biobank

(2021) Louise Wang et al.   GENETICS IN MEDICINE

Phenome-wide association analysis suggests the APOL1 linked disease spectrum primarily drives kidney specific pathways.

(2020) Archna Bajaj et al.   KIDNEY INTERNATIONAL

Genetically Determined Birthweight Associates with Atrial Fibrillation: A Mendelian Randomization Study

(2020) Rachel L. Kember et al.   Circulation-Genomic and Precision Medicine

Polygenic risk of psychiatric disorders exhibits cross-trait associations in electronic health record data from European ancestry individuals

(2020) Rachel L. Kember et al.   BIOLOGICAL PSYCHIATRY

SARS-CoV-2 seroprevalence among parturient women in Philadelphia

(2020) Dustin D. Flannery et al.   Science Immunology

Data model harmonization for the All Of Us Research Program: Transforming i2b2 data into the OMOP common data model

(2019) Jeffrey G. Klann et al.   PLoS One

Clinical use of current polygenic risk scores may exacerbate health disparities

(2019) Alicia R. Martin et al.   NATURE GENETICS

The Missing Diversity in Human Genetic Studies

(2019) Giorgio Sirugo et al.   CELL

FBN1 Coding Variants and Nonsyndromic Aortic Disease

(2019) Scott M. Damrauer et al.   Circulation-Genomic and Precision Medicine

A genome-first approach to aggregating rare genetic variants in LMNA for association with electronic health record phenotypes

(2019) Joseph Park et al.   GENETICS IN MEDICINE

The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species

(2019) Kent A Shefchek et al.   NUCLEIC ACIDS RESEARCH

Association of the V122I Hereditary Transthyretin Amyloidosis Genetic Variant With Heart Failure Among Individuals of African or Hispanic/Latino Ancestry

(2019) Scott M. Damrauer et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Reference-based phasing using the Haplotype Reference Consortium panel

(2016) Po-Ru Loh et al.   NATURE GENETICS

Next-generation genotype imputation service and methods

(2016) Sayantan Das et al.   NATURE GENETICS

Normalized names for clinical drugs: RxNorm at 6 years

(2011) Stuart J Nelson et al.   JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION