Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions

A brief history of human disease genetics

(2020) Melina Claussnitzer et al.   NATURE

Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression

(2020) Jamie E. Craig et al.   NATURE GENETICS

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

(2020) Konrad J. Karczewski et al.   NATURE

Association of Rare Pathogenic DNA Variants for Familial Hypercholesterolemia, Hereditary Breast and Ovarian Cancer Syndrome, and Lynch Syndrome With Disease Risk in Adults According to Family History

(2020) Aniruddh P. Patel et al.   JAMA Network Open

Predicting Splicing from Primary Sequence with Deep Learning

(2019) Kishore Jaganathan et al.   CELL

Whole Genome Sequencing to Characterize Monogenic and Polygenic Contributions in Patients Hospitalized with Early-Onset Myocardial Infarction

(2019) Amit V. Khera et al.   CIRCULATION

BOADICEA: a comprehensive breast cancer risk prediction model incorporating genetic and nongenetic risk factors

(2019) Andrew Lee et al.   GENETICS IN MEDICINE

Clinical use of current polygenic risk scores may exacerbate health disparities

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

International trends in the uptake of cancer risk reduction strategies in women with a BRCA1 or BRCA2 mutation

(2019) Kelly Metcalfe et al.   BRITISH JOURNAL OF CANCER

Polygenic Prediction of Weight and Obesity Trajectories from Birth to Adulthood

(2019) Amit V. Khera et al.   CELL

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

Comparative validation of breast cancer risk prediction models and projections for future risk stratification

(2019) Parichoy Pal Choudhury et al.   JNCI-Journal of the National Cancer Institute

Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders

(2019) M. T. Oetjens et al.   Nature Communications

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

(2019) Julian R. Homburger et al.   Genome Medicine

The GenomeAsia 100K Project enables genetic discoveries across Asia

(2019)   NATURE

Association of Racial/Ethnic Categories With the Ability of Genetic Tests to Detect a Cause of Cardiomyopathy

(2018) Latrice G. Landry et al.   JAMA Cardiology

Accurate classification of BRCA1 variants with saturation genome editing

(2018) Gregory M. Findlay et al.   NATURE

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

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

Deep-coverage whole genome sequences and blood lipids among 16,324 individuals

(2018) Pradeep Natarajan et al.   Nature Communications

Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects

(2018) Allison A. Regier et al.   Nature Communications

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

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

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

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

The UK Biobank resource with deep phenotyping and genomic data

(2018) Clare Bycroft et al.   NATURE

Discovery of common and rare genetic risk variants for colorectal cancer

(2018) Jeroen R. Huyghe et al.   NATURE GENETICS

Multiethnic polygenic risk scores improve risk prediction in diverse populations

(2017) Carla Márquez-Luna et al.   GENETIC EPIDEMIOLOGY

Association of Rare and Common Variation in the Lipoprotein Lipase Gene With Coronary Artery Disease

(2017) Amit V. Khera et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores

(2017) Julie Lecarpentier et al.   JOURNAL OF CLINICAL ONCOLOGY

Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers

(2017) Karoline B Kuchenbaecker et al.   JNCI-Journal of the National Cancer Institute

Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

(2017) Davina J Hensman Moss et al.   LANCET NEUROLOGY

Association analysis identifies 65 new breast cancer risk loci

(2017) Kyriaki Michailidou et al.   NATURE

Genetics of coronary artery disease: discovery, biology and clinical translation

(2017) Amit V. Khera et al.   NATURE REVIEWS GENETICS

Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers

(2017) Karoline B Kuchenbaecker et al.   JNCI-Journal of the National Cancer Institute

Personalized risk prediction for type 2 diabetes: the potential of genetic risk scores

(2016) Kristi Läll et al.   GENETICS IN MEDICINE

Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia

(2016) Amit V. Khera et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Developing and evaluating polygenic risk prediction models for stratified disease prevention

(2016) Nilanjan Chatterjee et al.   NATURE REVIEWS GENETICS

Genetic Risk, Adherence to a Healthy Lifestyle, and Coronary Disease

(2016) Amit V. Khera 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

Genetic identification of familial hypercholesterolemia within a single U.S. health care system

(2016) Noura S. Abul-Husn et al.   SCIENCE

Identification of Genetic Factors that Modify Clinical Onset of Huntington’s Disease

(2015) Jong-Min Lee et al.   CELL

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database

(2015) Pål Møller et al.   GUT

Toward better understanding of artifacts in variant calling from high-coverage samples

(2014) Heng Li   BIOINFORMATICS

CrossMap: a versatile tool for coordinate conversion between genome assemblies

(2013) Hao Zhao et al.   BIOINFORMATICS

Alternative Methods for H1 Simulations in Genome-Wide Association Studies

(2012) V. Perduca et al.   HUMAN HEREDITY

Public Health Action in Genomics Is Now Needed beyond Newborn Screening

(2012) M.S. Bowen et al.   Public Health Genomics

Cancer Risks Associated With Germline Mutations in MLH1, MSH2, and MSH6 Genes in Lynch Syndrome

(2011) Valérie Bonadona   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial

(2011) John Burn et al.   LANCET

A scalable, fully automated process for construction of sequence-ready human exome targeted capture libraries

(2011) Sheila Fisher et al.   GENOME BIOLOGY

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Common polygenic variation contributes to risk of schizophrenia and bipolar disorder

(2009) Shaun M. Purcell et al.   NATURE

Common variants at 30 loci contribute to polygenic dyslipidemia

(2008) Sekar Kathiresan et al.   NATURE GENETICS

Polygenes, Risk Prediction, and Targeted Prevention of Breast Cancer

(2008) Paul D.P. Pharoah et al.   NEW ENGLAND JOURNAL OF MEDICINE