D-Index & Metrics Best Publications
Research.com 2022 Best Scientist Award Badge

D-Index & Metrics

Discipline name D-index D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines. Citations Publications World Ranking National Ranking
Genetics and Molecular Biology D-index 159 Citations 212,600 347 World Ranking 43 National Ranking 31
Best Scientists D-index 181 Citations 245,107 622 World Ranking 398 National Ranking 266

Research.com Recognitions

Awards & Achievements

2022 - Research.com Best Scientist Award

2014 - Member of the National Academy of Medicine (NAM)

2014 - Curt Stern Award, American Society of Human Genetics

Overview

What is he best known for?

The fields of study he is best known for:

  • Gene
  • Genetics
  • Internal medicine

His primary scientific interests are in Genetics, Genome-wide association study, Genetic association, Single-nucleotide polymorphism and Human genome. The concepts of his Genome-wide association study study are interwoven with issues in Internal medicine, Imputation, Computational biology, Type 2 diabetes and Genetic architecture. His study in Genetic association is interdisciplinary in nature, drawing from both Body mass index, Genetic heterogeneity and Heritability.

As a part of the same scientific study, Gonçalo R. Abecasis usually deals with the Single-nucleotide polymorphism, concentrating on Case-control study and frequently concerns with Genotype and Macular degeneration. His Human genome study integrates concerns from other disciplines, such as Genetic variation and Genomics. His Genetic variation study also includes

  • 1000 Genomes Project which is related to area like Exome sequencing, Genomic Structural Variation and Information retrieval,
  • Human genetic variation together with Evolutionary biology,
  • Deep sequencing, Genome resequencing, Population genomics, Reference genome and Variant Call Format most often made with reference to Exome.

His most cited work include:

  • The Sequence Alignment/Map format and SAMtools (29524 citations)
  • A global reference for human genetic variation. (7825 citations)
  • A Map of Human Genome Variation From Population-Scale Sequencing (6302 citations)

What are the main themes of his work throughout his whole career to date?

His scientific interests lie mostly in Genetics, Genome-wide association study, Genetic association, Single-nucleotide polymorphism and Gene. Genetics is represented through his Locus, Genotype, Allele, Quantitative trait locus and Haplotype research. The various areas that Gonçalo R. Abecasis examines in his Genome-wide association study study include Bioinformatics, Genetic variation, Internal medicine, Imputation and Computational biology.

His Computational biology research is multidisciplinary, relying on both Genome and Genomics. His research in Genomics tackles topics such as 1000 Genomes Project which are related to areas like Exome sequencing. His Genetic association research integrates issues from Linkage disequilibrium, Meta-analysis, Genotyping, Exome and Genetic architecture.

He most often published in these fields:

  • Genetics (55.77%)
  • Genome-wide association study (44.39%)
  • Genetic association (25.75%)

What were the highlights of his more recent work (between 2017-2021)?

  • Genome-wide association study (44.39%)
  • Genetics (55.77%)
  • Genetic association (25.75%)

In recent papers he was focusing on the following fields of study:

Gonçalo R. Abecasis spends much of his time researching Genome-wide association study, Genetics, Genetic association, Computational biology and Gene. The Genome-wide association study study combines topics in areas such as Bioinformatics, Quantitative trait locus, Meta-analysis, Disease and Locus. His Genetic variation, Genome, Single-nucleotide polymorphism, Medical genetics and Allele study are his primary interests in Genetics.

His study on Genetic association also encompasses disciplines like

  • Biobank which is related to area like Sample and Statistics,
  • Whole genome sequencing that connect with fields like Indel. His Computational biology study incorporates themes from Allele frequency, Genomics, Imputation, DNA sequencing and Genetic architecture. His studies deal with areas such as Biorepository and Medical diagnosis as well as Genomics.

Between 2017 and 2021, his most popular works were:

  • Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps. (503 citations)
  • Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence (403 citations)
  • Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use (385 citations)

In his most recent research, the most cited papers focused on:

  • Gene
  • Internal medicine
  • Genetics

Genome-wide association study, Genetics, Computational biology, Genetic association and Genotype are his primary areas of study. His Genome-wide association study research is multidisciplinary, incorporating elements of Allele frequency, Medical genetics, Quantitative trait locus, Genetic architecture and Imputation. His work deals with themes such as Meta-analysis and Cholesterol, which intersect with Genetics.

He interconnects Genome, Data visualization, MEDLINE and Statistical power in the investigation of issues within Computational biology. He has researched Genetic association in several fields, including Sample, Data mining, Regression and Age of onset. His Genotype study combines topics from a wide range of disciplines, such as Biobank, Blood lipids, Exome, Behavioural genetics and Neuroscience.

This overview was generated by a machine learning system which analysed the scientist’s body of work. If you have any feedback, you can contact us here.

Best Publications

The Sequence Alignment/Map format and SAMtools

Heng Li;Bob Handsaker;Alec Wysoker;Tim Fennell.
Bioinformatics (2009)

29025 Citations

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

Goncalo R Abecasis;Adam Auton;Lisa D Brooks.
Nature (2012)

12381 Citations

A global reference for human genetic variation.

Adam Auton;Gonçalo R. Abecasis;David M. Altshuler;Richard M. Durbin.
Nature (2015)

6262 Citations

The variant call format and VCFtools

Petr Danecek;Adam Auton;Goncalo Abecasis;Cornelis A. Albers.
Bioinformatics (2011)

5511 Citations

A Map of Human Genome Variation From Population-Scale Sequencing

Gonçalo R Abecasis;David Altshuler;David Altshuler;Adam Auton.
Nature (2010)

5485 Citations

The International HapMap Project

John W. Belmont;Paul Hardenbol;Thomas D. Willis;Fuli Yu.
Nature (2003)

5253 Citations

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

Ewan Birney;John A. Stamatoyannopoulos;Anindya Dutta;Roderic Guigó.
Nature (2007)

5251 Citations

A haplotype map of the human genome

John W. Belmont;Andrew Boudreau;Suzanne M. Leal;Paul Hardenbol.
Nature (2003)

5062 Citations

A second generation human haplotype map of over 3.1 million SNPs

Kelly A. Frazer;Dennis G. Ballinger;David R. Cox;David A. Hinds.
Nature (2007)

4739 Citations

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees.

Gonçalo R. Abecasis;Stacey S. Cherny;William O. Cookson;Lon R. Cardon.
Nature Genetics (2002)

3672 Citations

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