D-Index & Metrics Best Publications
Research.com 2022 Best Scientist Award Badge
Genetics
USA
2023

D-Index & Metrics 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.

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
Best Scientists D-index 211 Citations 301,934 368 World Ranking 121 National Ranking 83
Medicine D-index 160 Citations 228,509 356 World Ranking 406 National Ranking 257
Genetics D-index 161 Citations 228,845 342 World Ranking 52 National Ranking 31

Research.com Recognitions

Awards & Achievements

2023 - Research.com Genetics in United States Leader Award

2022 - Research.com Best Scientist Award

2013 - Fellow of the American Academy of Arts and Sciences

Overview

What is he best known for?

The fields of study he is best known for:

  • Gene
  • Genetics
  • Internal medicine

David Altshuler focuses on Genetics, Genome-wide association study, Single-nucleotide polymorphism, Genetic association and Human genome. Haplotype, Genetic variation, Gene, Locus and Exome sequencing are the primary areas of interest in his Genetics study. His study in Genome-wide association study is interdisciplinary in nature, drawing from both Endocrinology, Coronary artery disease, Internal medicine, Allele and Imputation.

He combines subjects such as Case-control study and Copy-number variation with his study of Single-nucleotide polymorphism. His Genetic association research includes themes of Methylenetetrahydrofolate reductase, Quantitative trait locus, Genetic architecture, Genotyping and Hemodynamics. His Human genome research includes elements of Natural selection and Tag SNP.

His most cited work include:

  • The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data (13702 citations)
  • A global reference for human genetic variation. (7825 citations)
  • A framework for variation discovery and genotyping using next-generation DNA sequencing data (7392 citations)

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

The scientist’s investigation covers issues in Genetics, Single-nucleotide polymorphism, Genome-wide association study, Internal medicine and Type 2 diabetes. His Genetic association, Haplotype, Allele, Linkage disequilibrium and Locus investigations are all subjects of Genetics research. His Haplotype study combines topics from a wide range of disciplines, such as Human genome and Immunology.

In his study, which falls under the umbrella issue of Genome-wide association study, Genomics, Genome and Evolutionary biology is strongly linked to Genetic variation. His work deals with themes such as Diabetes mellitus, Endocrinology and Oncology, which intersect with Internal medicine. His Type 2 diabetes research incorporates themes from Polymorphism, TCF7L2, Insulin, Insulin resistance and Gene.

He most often published in these fields:

  • Genetics (110.59%)
  • Single-nucleotide polymorphism (52.97%)
  • Genome-wide association study (61.02%)

What were the highlights of his more recent work (between 2013-2021)?

  • Genetics (110.59%)
  • Genome-wide association study (61.02%)
  • Exome (20.13%)

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

His scientific interests lie mostly in Genetics, Genome-wide association study, Exome, Type 2 diabetes and Exome sequencing. Single-nucleotide polymorphism, Genetic association, Allele, Allele frequency and Minor allele frequency are subfields of Genetics in which his conducts study. The Genome-wide association study study combines topics in areas such as Quantitative trait locus, Genetic architecture, Glucose homeostasis and Imputation, Haplotype.

His work deals with themes such as Cancer, Breast cancer, Genetic variation and DNA sequencing, which intersect with Exome. His Genetic variation research incorporates elements of Human genetic variation and Genomics. His Type 2 diabetes research also works with subjects such as

  • Internal medicine, which have a strong connection to Data sequences,
  • Genome and 1000 Genomes Project most often made with reference to Computational biology.

Between 2013 and 2021, his most popular works were:

  • A global reference for human genetic variation. (7825 citations)
  • Analysis of protein-coding genetic variation in 60,706 humans (6694 citations)
  • Analysis of protein-coding genetic variation in 60,706 humans (6694 citations)

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

  • Gene
  • Genetics
  • Mutation

His primary areas of investigation include Genetics, Genome-wide association study, Genetic association, Exome and Exome sequencing. His Genetics study is mostly concerned with Single-nucleotide polymorphism, Allele, Genotype, Mutation and Gene. His Genotype research is multidisciplinary, incorporating perspectives in Odds ratio, Internal medicine and Endocrinology.

His work carried out in the field of Genome-wide association study brings together such families of science as Allele frequency, Glucose homeostasis, 1000 Genomes Project and Imputation, Haplotype. The various areas that he examines in his Exome sequencing study include Common disease-common variant and Missense mutation. He has included themes like Genetic variation and Genomics in his DNA sequencing study.

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

Aaron Henrik McKenna;Matthew Hanna;Eric Banks;Andrey Sivachenko.
Genome Research (2010)

19861 Citations

A global reference for human genetic variation.

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

10791 Citations

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

Mark A DePristo;Eric Banks;Ryan Poplin;Kiran V Garimella.
Nature Genetics (2011)

10029 Citations

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

Monkol Lek;Konrad J. Karczewski;Konrad J. Karczewski;Eric V. Minikel;Eric V. Minikel;Kaitlin E. Samocha.
Nature (2016)

8828 Citations

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

Vamsi K Mootha;Cecilia M Lindgren;Cecilia M Lindgren;Karl-Fredrik Eriksson;Aravind Subramanian.
Nature Genetics (2003)

8220 Citations

A Map of Human Genome Variation From Population-Scale Sequencing

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

6718 Citations

The Structure of Haplotype Blocks in the Human Genome

Stacey B. Gabriel;Stephen F. Schaffner;Huy Nguyen;Jamie M. Moore.
Science (2002)

6505 Citations

The International HapMap Project

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

5692 Citations

A haplotype map of the human genome

John W. Belmont;Andrew Boudreau;Suzanne M. Leal;Paul Hardenbol.
(2005)

5290 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.
(2007)

5078 Citations

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