Calibrated rare variant genetic risk scores for complex disease prediction using large exome sequence repositories

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

(2020) Konrad J. Karczewski et al.   NATURE

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

(2019) Amit V. Khera et al.   CIRCULATION

Clinical use of current polygenic risk scores may exacerbate health disparities

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

Analysis of polygenic risk score usage and performance in diverse human populations

(2019) L. Duncan et al.   Nature Communications

Solving the missing heritability problem

(2019) Alexander I. Young   PLoS Genetics

Genetics of early-onset coronary artery disease

(2019) Ricky Lali et al.   CURRENT OPINION IN CARDIOLOGY

Identification of missing variants by combining multiple analytic pipelines

(2018) Yingxue Ren et al.   BMC BIOINFORMATICS

Burden Testing of Rare Variants Identified through Exome Sequencing via Publicly Available Control Data

(2018) Michael H. Guo 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

The Genetic Landscape of Diamond-Blackfan Anemia

(2018) Jacob C. Ulirsch et al.   AMERICAN JOURNAL OF HUMAN GENETICS

ProxECAT: Proxy External Controls Association Test. A new case-control gene region association test using allele frequencies from public controls

(2018) Audrey E. Hendricks et al.   PLoS Genetics

Differences in the rare variant spectrum among human populations

(2017) Iain Mathieson et al.   PLoS Genetics

A machine-learning heuristic to improve gene score prediction of polygenic traits

(2017) Guillaume Paré et al.   Scientific Reports

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Genome-wide significance testing of variation from single case exomes

(2016) Amy B Wilfert et al.   NATURE GENETICS

A comprehensive 1000 Genomes–based genome-wide association meta-analysis of coronary artery disease

(2015) Majid Nikpay et al.   NATURE GENETICS

Second-generation PLINK: rising to the challenge of larger and richer datasets

(2015) Christopher C Chang et al.   GigaScience

mice: Multivariate Imputation by Chained Equations inR

(2015) Stef van Buuren et al.   Journal of Statistical Software

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction

(2014) Ron Do et al.   NATURE

Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls

(2014) Justin M Zook et al.   NATURE BIOTECHNOLOGY

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

Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

(2012) J. A. Tennessen et al.   SCIENCE

An Abundance of Rare Functional Variants in 202 Drug Target Genes Sequenced in 14,002 People

(2012) M. R. Nelson et al.   SCIENCE

Pooled Association Tests for Rare Variants in Exon-Resequencing Studies

(2010) Alkes L. Price et al.   AMERICAN JOURNAL OF HUMAN GENETICS

GOrilla: a tool for discovery and visualization of enriched GO terms in ranked gene lists

(2009) Eran Eden et al.   BMC BIOINFORMATICS

An evaluation of statistical approaches to rare variant analysis in genetic association studies

(2009) Andrew P. Morris et al.   GENETIC EPIDEMIOLOGY

A Groupwise Association Test for Rare Mutations Using a Weighted Sum Statistic

(2009) Bo Eskerod Madsen et al.   PLoS Genetics

Methods for Detecting Associations with Rare Variants for Common Diseases: Application to Analysis of Sequence Data

(2008) Bingshan Li et al.   AMERICAN JOURNAL OF HUMAN GENETICS

General Cardiovascular Risk Profile for Use in Primary Care

(2008) Ralph B. D’Agostino et al.   CIRCULATION