Low coverage whole genome sequencing enables accurate assessment of common variants and calculation of genome-wide polygenic scores

Multi-Gene Panel Testing of 23,179 Individuals for Hereditary Cancer Risk Identifies Pathogenic Variant Carriers Missed by Current Genetic Testing Guidelines

(2019) Cynthia L. Neben et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

A One-Penny Imputed Genome from Next-Generation Reference Panels

(2018) Brian L. Browning et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations

(2018) Amit V. Khera et al.   NATURE GENETICS

Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes

(2018) Nasim Mavaddat et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Very low depth whole genome sequencing in complex trait association studies

(2018) Arthur Gilly et al.   BIOINFORMATICS

Genomic Analyses from Non-invasive Prenatal Testing Reveal Genetic Associations, Patterns of Viral Infections, and Chinese Population History

(2018) Siyang Liu et al.   CELL

Genomic Risk Prediction of Coronary Artery Disease in 480,000 Adults

(2018) Michael Inouye et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Genomic insights into the origin of farming in the ancient Near East

(2016) Iosif Lazaridis et al.   NATURE

A reference panel of 64,976 haplotypes for genotype imputation

(2016)   NATURE GENETICS

Validation of self-reported and hospital-diagnosed atrial fibrillation: the HUNT-study

(2016) Vegard Malmo et al.   Clinical Epidemiology

Extensive sequencing of seven human genomes to characterize benchmark reference materials

(2016) Justin M. Zook et al.   Scientific Data

Improved Ancestry Estimation for both Genotyping and Sequencing Data using Projection Procrustes Analysis and Genotype Imputation

(2015) Chaolong Wang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Prediction of Breast Cancer Risk Based on Profiling With Common Genetic Variants

(2015) Nasim Mavaddat et al.   JNCI-Journal of the National Cancer Institute

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Prediction of Breast Cancer Risk Based on Profiling With Common Genetic Variants

(2015) Nasim Mavaddat et al.   JNCI-Journal of the National Cancer Institute

Estimating genotype error rates from high-coverage next-generation sequence data

(2014) Jeffrey D. Wall et al.   GENOME RESEARCH

SNP ascertainment bias in population genetic analyses: Why it is important, and how to correct it

(2013) Joseph Lachance et al.   BIOESSAYS

Concordance of National Cancer Registration with self-reported breast, bowel and lung cancer in England and Wales: a prospective cohort study within the UK Collaborative Trial of Ovarian Cancer Screening

(2013) A Gentry-Maharaj et al.   BRITISH JOURNAL OF CANCER

Rare Variant Association Testing Under Low-Coverage Sequencing

(2013) O. Navon et al.   GENETICS

Imputation across genotyping arrays for genome-wide association studies: assessment of bias and a correction strategy

(2013) Eric O. Johnson et al.   HUMAN GENETICS

Imputation-Based Genomic Coverage Assessments of Current Human Genotyping Arrays

(2013) Sarah C. Nelson et al.   G3-Genes Genomes Genetics

Generalization and Dilution of Association Results from European GWAS in Populations of Non-European Ancestry: The PAGE Study

(2013) Christopher S. Carlson et al.   PLOS BIOLOGY

Global and regional mortality from 235 causes of death for 20 age groups in 1990 and 2010: a systematic analysis for the Global Burden of Disease Study 2010

(2012) Rafael Lozano et al.   LANCET

Extremely low-coverage sequencing and imputation increases power for genome-wide association studies

(2012) Bogdan Pasaniuc et al.   NATURE GENETICS

The Metabochip, a Custom Genotyping Array for Genetic Studies of Metabolic, Cardiovascular, and Anthropometric Traits

(2012) Benjamin F. Voight et al.   PLoS Genetics

A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data

(2011) H. Li   BIOINFORMATICS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS