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List of works by Gonçalo Abecasis

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The Sequence Alignment/Map format and SAMtools

scientific article (publication date: 15 August 2009)
An integrated map of genetic variation from 1,092 human genomes

scientific article
A second generation human haplotype map of over 3.1 million SNPs

scientific article
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

scientific article published in June 2007
Biological, clinical and population relevance of 95 loci for blood lipids

scientific article
Genetic studies of body mass index yield new insights for obesity biology

scientific article
LocusZoom: regional visualization of genome-wide association scan results

scientific article (publication date: 15 September 2010)
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
Hundreds of variants clustered in genomic loci and biological pathways affect human height

scientific article
Discovery and refinement of loci associated with lipid levels

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

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

scientific article (publication date: 22 July 2012)
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)
Newly identified loci that influence lipid concentrations and risk of coronary artery disease

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

scientific article (publication date: 11 August 2012)
Defining the role of common variation in the genomic and biological architecture of adult human height

scientific article
Replicating genotype-phenotype associations

scientific article (publication date: 7 June 2007)
Common variants at 30 loci contribute to polygenic dyslipidemia

scientific article
Genotype imputation

scientific article (publication date: 2009)
A note on exact tests of Hardy-Weinberg equilibrium

scientific article
Common variants near MC4R are associated with fat mass, weight and risk of obesity

scientific article
Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma

scientific article (publication date: 26 July 2007)
A general test of association for quantitative traits in nuclear families

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

scientific article
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

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

scientific article published on 28 November 2012
New genetic loci link adipose and insulin biology to body fat distribution

scientific article
Mapping complex disease traits with global gene expression

scientific article
Seven new loci associated with age-related macular degeneration

scientific article
Next-generation genotype imputation service and methods

scientific article published on 29 August 2016
Meta-analysis and imputation refines the association of 15q25 with smoking quantity

scientific article
Variants in MTNR1B influence fasting glucose levels

scientific article
Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity.

scientific article
An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people

scientific article published on 17 May 2012
Loss-of-function mutations in APOC3, triglycerides, and coronary disease

scientific article published on 18 June 2014
The genetic architecture of type 2 diabetes

scientific article (publication date: 11 July 2016)
The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits

scientific article
Identification of ten loci associated with height highlights new biological pathways in human growth

scientific article
Common variants associated with plasma triglycerides and risk for coronary artery disease

scientific article
Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution

scientific article published in June 2009
A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

scientific article published on 21 December 2015
Family-based association tests for genomewide association scans

scientific article
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture

scientific journal article
Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration

scientific article (2010)
Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis

scientific article

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