Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins

Determinants of Mutation Rate Variation in the Human Germline

(2014) Laure Ségurel et al.   Annual Review of Genomics and Human Genetics

The deleterious mutation load is insensitive to recent population history

(2014) Yuval B Simons et al.   NATURE GENETICS

Population Genomic Analysis of Ancient and Modern Genomes Yields New Insights into the Genetic Ancestry of the Tyrolean Iceman and the Genetic Structure of Europe

(2014) Martin Sikora et al.   PLoS Genetics

High Risk Population Isolate Reveals Low Frequency Variants Predisposing to Intracranial Aneurysms

(2014) Mitja I. Kurki et al.   PLoS Genetics

Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits

(2013) Unnur Styrkarsdottir et al.   NATURE

Ancient DNA Reveals Key Stages in the Formation of Central European Mitochondrial Genetic Diversity

(2013) G. Brandt et al.   SCIENCE

Properties and rates of germline mutations in humans

(2013) Catarina D. Campbell et al.   TRENDS IN GENETICS

Genome-wide association study implicates NDST3 in schizophrenia and bipolar disorder

(2013) Todd Lencz et al.   Nature Communications

A rare functional cardioprotective APOC3 variant has risen in frequency in distinct population isolates

(2013) Ioanna Tachmazidou et al.   Nature Communications

Genome-Wide Diversity in the Levant Reveals Recent Structuring by Culture

(2013) Marc Haber et al.   PLoS Genetics

Whole-Exome Sequencing Reveals a Rapid Change in the Frequency of Rare Functional Variants in a Founding Population of Humans

(2013) Ferran Casals et al.   PLoS Genetics

Reconstructing Native American Migrations from Whole-Genome and Whole-Exome Data

(2013) Simon Gravel et al.   PLoS Genetics

Mitochondrial DNA Signals of Late Glacial Recolonization of Europe from Near Eastern Refugia

(2012) Maria Pala et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Length Distributions of Identity by Descent Reveal Fine-Scale Demographic History

(2012) Pier Francesco Palamara et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Variance of Identity-by-Descent Sharing in the Wright-Fisher Model

(2012) S. Carmi et al.   GENETICS

A calibrated human Y-chromosomal phylogeny based on resequencing

(2012) W. Wei et al.   GENOME RESEARCH

The population genetics of the Jewish people

(2012) Harry Ostrer et al.   HUMAN GENETICS

Distinguishing Between Longevity and Buffered-Deleterious Genotypes for Exceptional Human Longevity: The Case of the MTP Gene

(2012) D. M. Huffman et al.   JOURNALS OF GERONTOLOGY SERIES A-BIOLOGICAL SCIENCES AND MEDICAL SCIENCES

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

(2012)   NATURE

Rate of de novo mutations and the importance of father’s age to disease risk

(2012) Augustine Kong et al.   NATURE

Fast and accurate genotype imputation in genome-wide association studies through pre-phasing

(2012) Bryan Howie et al.   NATURE GENETICS

Improved whole-chromosome phasing for disease and population genetic studies

(2012) Olivier Delaneau et al.   NATURE METHODS

Revising the human mutation rate: implications for understanding human evolution

(2012) Aylwyn Scally et al.   NATURE REVIEWS GENETICS

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

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

Origins and Genetic Legacy of Neolithic Farmers and Hunter-Gatherers in Europe

(2012) P. Skoglund et al.   SCIENCE

Recent Explosive Human Population Growth Has Resulted in an Excess of Rare Genetic Variants

(2012) A. Keinan et al.   SCIENCE

A Genome-Wide Scan of Ashkenazi Jewish Crohn's Disease Suggests Novel Susceptibility Loci

(2012) Eimear E. Kenny et al.   PLoS Genetics

Implications for health and disease in the genetic signature of the Ashkenazi Jewish population

(2012) Saurav Guha et al.   GENOME BIOLOGY

Genome-Wide association study identifies candidate genes for Parkinson's disease in an Ashkenazi Jewish population

(2011) Xinmin Liu et al.   BMC Medical Genetics

Low-Pass Genome-Wide Sequencing and Variant Inference Using Identity-by-Descent in an Isolated Human Population

(2011) A. Gusev et al.   GENETICS

Global analysis of disease-related DNA sequence variation in 10 healthy individuals: Implications for whole genome-based clinical diagnostics

(2011) Barry Moore et al.   GENETICS IN MEDICINE

The Architecture of Long-Range Haplotypes Shared within and across Populations

(2011) A. Gusev et al.   MOLECULAR BIOLOGY AND EVOLUTION

The earliest evidence for anatomically modern humans in northwestern Europe

(2011) Tom Higham et al.   NATURE

Demographic history and rare allele sharing among human populations

(2011) S. Gravel et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Analytical results on the neutral non-equilibrium allele frequency spectrum based on diffusion theory

(2011) Daniel Živković et al.   THEORETICAL POPULATION BIOLOGY

Abraham's Children in the Genome Era: Major Jewish Diaspora Populations Comprise Distinct Genetic Clusters with Shared Middle Eastern Ancestry

(2010) Gil Atzmon et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Signatures of founder effects, admixture, and selection in the Ashkenazi Jewish population

(2010) S. M. Bray et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Ancient DNA from European Early Neolithic Farmers Reveals Their Near Eastern Affinities

(2010) Wolfgang Haak et al.   PLOS BIOLOGY

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

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

Genotype-Imputation Accuracy across Worldwide Human Populations

(2009) Lucy Huang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genomic microsatellites identify shared Jewish ancestry intermediate between Middle Eastern and European populations

(2009) Naama M Kopelman et al.   BMC GENETICS

Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays

(2009) R. Drmanac et al.   SCIENCE

Inferring the Joint Demographic History of Multiple Populations from Multidimensional SNP Frequency Data

(2009) Ryan N. Gutenkunst et al.   PLoS Genetics

A Flexible and Accurate Genotype Imputation Method for the Next Generation of Genome-Wide Association Studies

(2009) Bryan N. Howie et al.   PLoS Genetics

A genome-wide genetic signature of Jewish ancestry perfectly separates individuals with and without full Jewish ancestry in a large random sample of European Americans

(2009) Anna C Need et al.   GENOME BIOLOGY

Analysis of genetic variation in Ashkenazi Jews by high density SNP genotyping

(2008) Adam B Olshen et al.   BMC GENETICS

Fast and flexible simulation of DNA sequence data

(2008) G. K. Chen et al.   GENOME RESEARCH

Whole population, genome-wide mapping of hidden relatedness

(2008) A. Gusev et al.   GENOME RESEARCH

Proportionally more deleterious genetic variation in European than in African populations

(2008) Kirk E. Lohmueller et al.   NATURE

Discerning the Ancestry of European Americans in Genetic Association Studies

(2008) Alkes L. Price et al.   PLoS Genetics

Worldwide Human Relationships Inferred from Genome-Wide Patterns of Variation

(2008) J. Z. Li et al.   SCIENCE