Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery

Regional research priorities in brain and nervous system disorders

(2015) Vijayalakshmi Ravindranath et al.   NATURE

No evidence that selection has been less effective at removing deleterious mutations in Europeans than in Africans

(2015) Ron Do et al.   NATURE GENETICS

Identification of a large set of rare complete human knockouts

(2015) Patrick Sulem et al.   NATURE 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

Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations

(2015) S. Okada et al.   SCIENCE

H 3 M 2 : detection of runs of homozygosity from whole-exome sequencing data

(2014) Alberto Magi et al.   BIOINFORMATICS

Consanguinity and genetic diseases in North Africa and immigrants to Europe

(2014) W. A. Anwar et al.   EUROPEAN JOURNAL OF PUBLIC HEALTH

Detection of Runs of Homozygosity from Whole Exome Sequencing Data: State of the Art and Perspectives for Clinical, Population and Epidemiological Studies

(2014) Tommaso Pippucci et al.   HUMAN HEREDITY

Association of a Low-Frequency Variant inHNF1AWith Type 2 Diabetes in a Latino Population

(2014) Karol Estrada et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

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

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

Altitude adaptation in Tibetans caused by introgression of Denisovan-like DNA

(2014) Emilia Huerta-Sánchez et al.   NATURE

The genomic landscape of Neanderthal ancestry in present-day humans

(2014) Sriram Sankararaman et al.   NATURE

Guidelines for investigating causality of sequence variants in human disease

(2014) D. G. MacArthur et al.   NATURE

The deleterious mutation load is insensitive to recent population history

(2014) Yuval B Simons et al.   NATURE GENETICS

A Genetic Atlas of Human Admixture History

(2014) G. Hellenthal et al.   SCIENCE

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

(2014) G. Novarino et al.   SCIENCE

Long Runs of Homozygosity Are Enriched for Deleterious Variation

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

Neanderthal and Denisova genetic affinities with contemporary humans: Introgression versus common ancestral polymorphisms

(2013) Robert K. Lowery et al.   GENE

Apparent Variation in Neanderthal Admixture among African Populations is Consistent with Gene Flow from Non-African Populations

(2013) Shuoguo Wang et al.   Genome Biology and Evolution

RefSeq: an update on mammalian reference sequences

(2013) Kim D. Pruitt et al.   NUCLEIC ACIDS RESEARCH

Gene flow from North Africa contributes to differential human genetic diversity in southern Europe

(2013) L. R. Botigue et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Autozygome Sequencing Expands the Horizon of Human Knockout Research and Provides Novel Insights into Human Phenotypic Variation

(2013) Ahmed B. Alsalem et al.   PLoS Genetics

Reconstructing the Population Genetic History of the Caribbean

(2013) Andrés Moreno-Estrada et al.   PLoS Genetics

Genomic Patterns of Homozygosity in Worldwide Human Populations

(2012) Trevor J. Pemberton et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

Patterns and rates of exonic de novo mutations in autism spectrum disorders

(2012) Benjamin M. Neale et al.   NATURE

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

(2012)   NATURE

A High-Coverage Genome Sequence from an Archaic Denisovan Individual

(2012) M. Meyer et al.   SCIENCE

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

(2012) D. G. MacArthur et al.   SCIENCE

Genomic Ancestry of North Africans Supports Back-to-Africa Migrations

(2012) Brenna M. Henn et al.   PLoS Genetics

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

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

The variant call format and VCFtools

(2011) P. Danecek et al.   BIOINFORMATICS

Consanguinity around the world: what do the genomic data of the HGDP-CEPH diversity panel tell us?

(2011) Anne-Louise Leutenegger et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

(2011) Mark A DePristo et al.   NATURE GENETICS

Erratum: Hereditary spastic paraplegias: membrane traffic and the motor pathway

(2011) Craig Blackstone et al.   NATURE REVIEWS NEUROSCIENCE

Population Genetic Structure of the People of Qatar

(2010) Haley Hunter-Zinck et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Robust relationship inference in genome-wide association studies

(2010) Ani Manichaikul et al.   BIOINFORMATICS

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

(2010) Heng Li et al.   BIOINFORMATICS

BEDTools: a flexible suite of utilities for comparing genomic features

(2010) Aaron R. Quinlan et al.   BIOINFORMATICS

Comparative assessment of methods for estimating individual genome-wide homozygosity-by-descent from human genomic data

(2010) Ozren Polašek et al.   BMC GENOMICS

The genome-wide structure of the Jewish people

(2010) Doron M. Behar et al.   NATURE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

A Draft Sequence of the Neandertal Genome

(2010) R. E. Green et al.   SCIENCE

Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++

(2010) Eugene V. Davydov et al.   PLoS Computational Biology

Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study

(2009) A. K. Erichsen et al.   BRAIN

Fast model-based estimation of ancestry in unrelated individuals

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

Consanguinity and reproductive health among Arabs

(2009) Ghazi O Tadmouri et al.   Reproductive Health

Worldwide Human Relationships Inferred from Genome-Wide Patterns of Variation

(2008) J. Z. Li et al.   SCIENCE