Whole-exome sequencing to analyze population structure, parental inbreeding, and familial linkage

The mutation significance cutoff: gene-level thresholds for variant predictions

(2016) Yuval Itan et al.   NATURE METHODS

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

CATCHing putative causative variants in consanguineous families

(2015) Federico Andrea Santoni et al.   BMC BIOINFORMATICS

Can whole-exome sequencing data be used for linkage analysis?

(2015) Steven Gazal et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing

(2015) Daliya Kancheva et al.   GENETICS IN MEDICINE

Genetic linkage analysis in the age of whole-genome sequencing

(2015) Jurg Ott et al.   NATURE REVIEWS GENETICS

Can the impact of human genetic variations be predicted?

(2015) Yuval Itan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The human gene damage index as a gene-level approach to prioritizing exome variants

(2015) Yuval Itan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants

(2015) Aziz Belkadi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

(2015) E. T. Cirulli et al.   SCIENCE

FSuite: exploiting inbreeding in dense SNP chip and exome data

(2014) Steven Gazal et al.   BIOINFORMATICS

Analysis of rare variant population structure in Europeans explains differential stratification of gene-based tests

(2014) Matthew Zawistowski et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

(2014) Anil Raj et al.   GENETICS

Inbreeding Coefficient Estimation with Dense SNP Data: Comparison of Strategies and Application to HapMap III

(2014) Steven Gazal et al.   HUMAN HEREDITY

Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies

(2014) Jean-Laurent Casanova et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Rare Variation Facilitates Inferences of Fine-Scale Population Structure in Humans

(2014) Timothy D. O’Connor et al.   MOLECULAR BIOLOGY AND EVOLUTION

Ancient west Eurasian ancestry in southern and eastern Africa

(2014) J. K. Pickrell et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The genetics of Mexico recapitulates Native American substructure and affects biomedical traits

(2014) A. Moreno-Estrada et al.   SCIENCE

Analysis of Stop-Gain and Frameshift Variants in Human Innate Immunity Genes

(2014) Antonio Rausell et al.   PLoS Computational Biology

Long Runs of Homozygosity Are Enriched for Deleterious Variation

(2013) Zachary A. Szpiech et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Distilling Pathophysiology from Complex Disease Genetics

(2013) Aravinda Chakravarti et al.   CELL

An ACT1 Mutation Selectively Abolishes Interleukin-17 Responses in Humans with Chronic Mucocutaneous Candidiasis

(2013) Bertrand Boisson et al.   IMMUNITY

Inherited human OX40 deficiency underlying classic Kaposi sarcoma of childhood

(2013) Minji Byun et al.   JOURNAL OF EXPERIMENTAL MEDICINE

The human gene connectome as a map of short cuts for morbid allele discovery

(2013) Y. Itan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Ribosomal Protein SA Haploinsufficiency in Humans with Isolated Congenital Asplenia

(2013) A. Bolze et al.   SCIENCE

Low Frequency Variants, Collapsed Based on Biological Knowledge, Uncover Complexity of Population Stratification in 1000 Genomes Project Data

(2013) Carrie B. Moore et al.   PLoS Genetics

Autozygosity Mapping with Exome Sequence Data

(2012) Ian M. Carr et al.   HUMAN MUTATION

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Exome sequencing and the genetic basis of complex traits

(2012) Adam Kiezun et al.   NATURE GENETICS

Differential confounding of rare and common variants in spatially structured populations

(2012) Iain Mathieson et al.   NATURE GENETICS

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

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

Inference of Population Splits and Mixtures from Genome-Wide Allele Frequency Data

(2012) Joseph K. Pickrell et al.   PLoS Genetics

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Exome sequencing as a tool for Mendelian disease gene discovery

(2011) Michael J. Bamshad et al.   NATURE REVIEWS GENETICS

Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes

(2011) Katherine R Smith et al.   GENOME BIOLOGY

Whole-Exome-Sequencing-Based Discovery of Human FADD Deficiency

(2010) Alexandre Bolze et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

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

(2010) A. McKenna et al.   GENOME RESEARCH

The genome-wide structure of the Jewish people

(2010) Doron M. Behar et al.   NATURE

Integrating common and rare genetic variation in diverse human populations

(2010)   NATURE

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

Genome-wide patterns of population structure and admixture in West Africans and African Americans

(2009) K. Bryc et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mapping Human Genetic Diversity in Asia

(2009) et al.   SCIENCE

Sensitive Detection of Chromosomal Segments of Distinct Ancestry in Admixed Populations

(2009) Alkes L. Price et al.   PLoS Genetics

Runs of Homozygosity in European Populations

(2008) Ruth McQuillan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genes mirror geography within Europe

(2008) John Novembre et al.   NATURE

Worldwide Human Relationships Inferred from Genome-Wide Patterns of Variation

(2008) J. Z. Li et al.   SCIENCE