Summix: A method for detecting and adjusting for population structure in genetic summary data

Exome-Based Case-Control Analysis Highlights the Pathogenic Role of Ciliary Genes in Transposition of the Great Arteries

(2020) Xuanyu Liu et al.   CIRCULATION RESEARCH

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

(2020) Konrad J. Karczewski et al.   NATURE

Carrier frequency of CFTR variants in the non‐Caucasian populations by genome aggregation database (gnomAD)‐based analysis

(2020) Stefania Nappo et al.   ANNALS OF HUMAN GENETICS

Exome Sequencing Identifies Genes and Gene Sets Contributing to Severe Childhood Obesity, Linking PHIP Variants to Repressed POMC Transcription

(2020) Gaëlle Marenne et al.   Cell Metabolism

Assessment of LIN28A variants in Parkinson's disease in large European cohorts

(2020) Monica Diez-Fairen et al.   NEUROBIOLOGY OF AGING

Variant PADI3 in Central Centrifugal Cicatricial Alopecia

(2019) Liron Malki et al.   NEW ENGLAND JOURNAL OF MEDICINE

The Missing Diversity in Human Genetic Studies

(2019) Giorgio Sirugo et al.   CELL

Fast and robust deconvolution of tumor infiltrating lymphocyte from expression profiles using least trimmed squares

(2019) Yuning Hao et al.   PLoS Computational Biology

The formation of human populations in South and Central Asia

(2019) Vagheesh M. Narasimhan et al.   SCIENCE

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

Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing

(2018) Hsiao-Mei Lu et al.   JAMA Oncology

Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program

(2018) Derek Klarin et al.   NATURE GENETICS

The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019

(2018) Annalisa Buniello et al.   NUCLEIC ACIDS RESEARCH

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

Improving power for rare-variant tests by integrating external controls

(2017) Seunggeun Lee et al.   GENETIC EPIDEMIOLOGY

The promise of discovering population-specific disease-associated genes in South Asia

(2017) Nathan Nakatsuka et al.   NATURE GENETICS

Refined genetic maps reveal sexual dimorphism in human meiotic recombination at multiple scales

(2017) Claude Bhérer et al.   Nature Communications

Simultaneous enumeration of cancer and immune cell types from bulk tumor gene expression data

(2017) Julien Racle et al.   eLife

Efficient analysis of large datasets and sex bias with ADMIXTURE

(2016) Suyash S. Shringarpure et al.   BMC BIOINFORMATICS

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics

(2016) Sarah S. Kalia et al.   GENETICS IN MEDICINE

Strong Selection at MHC in Mexicans since Admixture

(2016) Quan Zhou et al.   PLoS Genetics

Fast individual ancestry inference from DNA sequence data leveraging allele frequencies for multiple populations

(2015) Vikas Bansal et al.   BMC BIOINFORMATICS

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

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

fastSTRUCTURE: Variational Inference of Population Structure in Large SNP Data Sets

(2014) Anil Raj et al.   GENETICS

Enhanced Methods for Local Ancestry Assignment in Sequenced Admixed Individuals

(2014) Robert Brown et al.   PLoS Computational Biology

DeconRNASeq: a statistical framework for deconvolution of heterogeneous tissue samples based on mRNA-Seq data

(2013) Ting Gong et al.   BIOINFORMATICS

A Comprehensive Genetic Association Study of Alzheimer Disease in African Americans

(2011) Mark W. Logue   ARCHIVES OF NEUROLOGY

Method agreement analysis: A review of correct methodology

(2010) P.F. Watson et al.   THERIOGENOLOGY

Rapid Assessment of Genetic Ancestry in Populations of Unknown Origin by Genome-Wide Genotyping of Pooled Samples

(2010) Charleston W. K. Chiang et al.   PLoS Genetics

Fast model-based estimation of ancestry in unrelated individuals

(2009) D. H. Alexander et al.   GENOME RESEARCH

Reconstructing Indian population history

(2009) David Reich et al.   NATURE