Exome sequencing and analysis of 454,787 UK Biobank participants

Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

(2021) Daniel Taliun et al.   NATURE

Mitochondria-rough-ER contacts in the liver regulate systemic lipid homeostasis

(2021) Irene Anastasia et al.   Cell Reports

Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individuals

(2021) Jack A. Kosmicki et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Computationally efficient whole-genome regression for quantitative and binary traits

(2021) Joelle Mbatchou et al.   NATURE GENETICS

Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank

(2021) Joseph D. Szustakowski et al.   NATURE GENETICS

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Exome sequencing and characterization of 49,960 individuals in the UK Biobank

(2020) Cristopher V. Van Hout et al.   NATURE

Inherited causes of clonal haematopoiesis in 97,691 whole genomes

(2020) Alexander G. Bick et al.   NATURE

The GTEx Consortium atlas of genetic regulatory effects across human tissues

(2020)   SCIENCE

Gangliosides in the Brain: Physiology, Pathophysiology and Therapeutic Applications

(2020) Simonetta Sipione et al.   Frontiers in Neuroscience

Genotype imputation using the Positional Burrows Wheeler Transform

(2020) Simone Rubinacci et al.   PLoS Genetics

Demographic history mediates the effect of stratification on polygenic scores

(2020) Arslan A Zaidi et al.   eLife

A RANDOMIZED, PLACEBO-CONTROLLED, DOUBLE-BLIND, ASCENDING SINGLE-DOSE, PHASE 1 STUDY TO EVALUATE THE SAFETY, TOLERABILITY, PHARMACOKINETICS, AND PHARMACODYNAMICS OF AMG 529, A NOVEL ANTI-ASGR1 MONOCLONAL ANTIBODY, IN HEALTHY SUBJECTS

(2019) Mariano Janiszewski et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Ep400 deficiency in Schwann cells causes persistent expression of early developmental regulators and peripheral neuropathy

(2019) Franziska Fröb et al.   Nature Communications

Accurate, scalable and integrative haplotype estimation

(2019) Olivier Delaneau et al.   Nature Communications

T1 white/gray contrast as a predictor of chronological age, and an index of cognitive performance

(2018) John D. Lewis et al.   NEUROIMAGE

Gray/White Matter Contrast in Parkinson’s Disease

(2018) Carme Uribe et al.   Frontiers in Aging Neuroscience

Connexin 43/47 channels are important for astrocyte/oligodendrocyte cross-talk in myelination and demyelination

(2018) Rahul Basu et al.   JOURNAL OF BIOSCIENCES

Genome-wide association studies of brain imaging phenotypes in UK Biobank

(2018) Lloyd T. Elliott et al.   NATURE

The UK Biobank resource with deep phenotyping and genomic data

(2018) Clare Bycroft et al.   NATURE

Trans-ethnic association study of blood pressure determinants in over 750,000 individuals

(2018) Ayush Giri et al.   NATURE GENETICS

Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease

(2017) Wei Zhao et al.   NATURE GENETICS

Clonal Hematopoiesis and Risk of Atherosclerotic Cardiovascular Disease

(2017) Siddhartha Jaiswal et al.   NEW ENGLAND JOURNAL OF MEDICINE

VariantASGR1Associated with a Reduced Risk of Coronary Artery Disease

(2016) Paul Nioi et al.   NEW ENGLAND JOURNAL OF MEDICINE

Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study

(2016) Frederick E. Dewey et al.   SCIENCE

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

An atlas of genetic correlations across human diseases and traits

(2015) Brendan Bulik-Sullivan et al.   NATURE GENETICS

SIFT missense predictions for genomes

(2015) Robert Vaser et al.   Nature Protocols

Gray & white matter tissue contrast differentiates Mild Cognitive Impairment converters from non-converters

(2014) Angela L. Jefferson et al.   Brain Imaging and Behavior

Piezo1 integration of vascular architecture with physiological force

(2014) Jing Li et al.   NATURE

Searching for missing heritability: Designing rare variant association studies

(2014) O. Zuk et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Beyond GWASs: Illuminating the Dark Road from Association to Function

(2013) Stacey L. Edwards et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Differential confounding of rare and common variants in spatially structured populations

(2012) Iain Mathieson et al.   NATURE GENETICS

Fast and accurate genotype imputation in genome-wide association studies through pre-phasing

(2012) Bryan Howie et al.   NATURE GENETICS

Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits

(2012) Jian Yang et al.   NATURE GENETICS

Rare-Variant Association Testing for Sequencing Data with the Sequence Kernel Association Test

(2011) Michael C. Wu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

ASK3, a novel member of the apoptosis signal-regulating kinase family, is essential for stress-induced cell death in HeLa cells

(2010) Takahide Kaji et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Increased Sensitivity of Histidinemic Mice to UVB Radiation Suggests a Crucial Role of Endogenous Urocanic Acid in Photoprotection

(2010) Caterina Barresi et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Identification of deleterious mutations within three human genomes

(2009) S. Chun et al.   GENOME RESEARCH

IRBIT, Inositol 1,4,5-Triphosphate (IP3) Receptor-binding Protein Released with IP3, Binds Na+/H+Exchanger NHE3 and Activates NHE3 Activity in Response to Calcium

(2008) Peijian He et al.   JOURNAL OF BIOLOGICAL CHEMISTRY