List of works - David Altshuler

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

scientific article (publication date: September 2010)

A map of human genome variation from population-scale sequencing

scientific article published on October 28, 2010

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

scientific article (publication date: May 2011)

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

scientific article (publication date: 17 August 2016)

PGC-1alpha-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes

scientific article (publication date: July 2003)

A second generation human haplotype map of over 3.1 million SNPs

scientific article

The structure of haplotype blocks in the human genome

scientific article

Biological, clinical and population relevance of 95 loci for blood lipids

scientific article

Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels

scientific article (publication date: June 2007)

From FastQ Data to High‐Confidence Variant Calls: The Genome Analysis Toolkit Best Practices Pipeline

scientific article published on January 1, 2013

A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms

scientific article (publication date: 15 February 2001)

Genome-wide detection and characterization of positive selection in human populations

scientific article

New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

scientific article

Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk

scientific article published on 6 October 2011

Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes

scientific article

Efficiency and power in genetic association studies

scientific article

Age-related clonal hematopoiesis associated with adverse outcomes

scientific article

Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes

scientific article

Six new loci associated with body mass index highlight a neuronal influence on body weight regulation

scientific article

Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis

scientific article

Evolution and functional impact of rare coding variation from deep sequencing of human exomes

scientific article (publication date: 6 July 2012)

Detecting recent positive selection in the human genome from haplotype structure

scientific article

Association between microdeletion and microduplication at 16p11.2 and autism

scientific article

Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease

scientific article

Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study

scientific article (publication date: 11 August 2012)

Characterization of single-nucleotide polymorphisms in coding regions of human genes

scientific article (publication date: July 1999)

Positive natural selection in the human lineage

scientific article (publication date: 16 June 2006)

Replicating genotype-phenotype associations

scientific article (publication date: 7 June 2007)

Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans

scientific article

Common variants at 30 loci contribute to polygenic dyslipidemia

scientific article

Genetic mapping in human disease

scientific article (publication date: 7 November 2008)

Mapping and sequencing of structural variation from eight human genomes

scientific article

Large-scale association analysis identifies new risk loci for coronary artery disease

scientific article published on 02 December 2012

Genome-wide association study identifies eight loci associated with blood pressure

scientific article (publication date: June 2009)

The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes

scientific article

Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants

scientific article

Integrated detection and population-genetic analysis of SNPs and copy number variation

scientific article (publication date: October 2008)

Common deletion polymorphisms in the human genome

scientific article

Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility

scientific article

Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs

scientific article published on 07 September 2008

A reference panel of 64,976 haplotypes for genotype imputation

scientific article

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

scientific article published on 28 November 2012

Genetic analysis of human traits in vitro: drug response and gene expression in lymphoblastoid cell lines

scientific article

Multiple regions within 8q24 independently affect risk for prostate cancer

scientific article published on April 2007

Assessing the impact of population stratification on genetic association studies

scientific article

Clinical risk factors, DNA variants, and the development of type 2 diabetes

scientific article

TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study

scientific article

Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease

scientific article

Estimation of the multiple testing burden for genomewide association studies of nearly all common variants

scientific article (publication date: May 2008)

Calibrating a coalescent simulation of human genome sequence variation

scientific article published on November 2005

List of works by David Altshuler

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

A map of human genome variation from population-scale sequencing

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

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

PGC-1alpha-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes

A second generation human haplotype map of over 3.1 million SNPs

The structure of haplotype blocks in the human genome

Biological, clinical and population relevance of 95 loci for blood lipids

Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels

From FastQ Data to High‐Confidence Variant Calls: The Genome Analysis Toolkit Best Practices Pipeline

A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms

Genome-wide detection and characterization of positive selection in human populations

New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk

Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes

Efficiency and power in genetic association studies

Age-related clonal hematopoiesis associated with adverse outcomes

Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes

Six new loci associated with body mass index highlight a neuronal influence on body weight regulation

Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis

Evolution and functional impact of rare coding variation from deep sequencing of human exomes

Detecting recent positive selection in the human genome from haplotype structure

Association between microdeletion and microduplication at 16p11.2 and autism

Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease

Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study

Characterization of single-nucleotide polymorphisms in coding regions of human genes

Positive natural selection in the human lineage

Replicating genotype-phenotype associations

Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans

Common variants at 30 loci contribute to polygenic dyslipidemia

Genetic mapping in human disease

Mapping and sequencing of structural variation from eight human genomes

Large-scale association analysis identifies new risk loci for coronary artery disease

Genome-wide association study identifies eight loci associated with blood pressure

The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes

Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants

Integrated detection and population-genetic analysis of SNPs and copy number variation

Common deletion polymorphisms in the human genome

Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility

Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs

A reference panel of 64,976 haplotypes for genotype imputation

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

Genetic analysis of human traits in vitro: drug response and gene expression in lymphoblastoid cell lines

Multiple regions within 8q24 independently affect risk for prostate cancer

Assessing the impact of population stratification on genetic association studies

Clinical risk factors, DNA variants, and the development of type 2 diabetes

TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study

Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease

Estimation of the multiple testing burden for genomewide association studies of nearly all common variants

Calibrating a coalescent simulation of human genome sequence variation