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2025
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Genetics
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2026

D-Index & Metrics

Best Scientists

D-Index
173
Citations
284044
World Ranking
751
National Ranking
462

Genetics

D-Index
174
Citations
298127
World Ranking
57
National Ranking
33

Medicine

D-Index
174
Citations
298914
World Ranking
440
National Ranking
266

Research.com Recognitions

  • 2026 - Research.com Genetics in United States Leader Award
  • 2025 - Research.com Best Scientists Award
  • 2025 - Research.com Genetics in United States Leader Award
  • 2024 - Research.com Genetics in United States Leader Award
  • 2024 - Research.com Genetics and Molecular Biology in United States Leader Award
  • 2023 - Research.com Genetics in United States Leader Award
  • 2013 - Fellow of the American Academy of Arts and Sciences
  • 2011 - Curt Stern Award, American Society of Human Genetics
  • 2010 - Member of the National Academy of Medicine (NAM)
  • Member of the Association of American Physicians
  • Member of the Association of American Physicians
  • Member of the Association of American Physicians
  • Member of the Association of American Physicians
  • Member of the Association of American Physicians

Overview

David Altshuler is affiliated with Harvard University in the United States and has a body of work spanning medicine and biochemistry, genetics, and molecular biology. Their research predominantly focuses on genetics, with specific interest in molecular biology, pulmonary and respiratory medicine, neurology, and surgery as subfields.

The main topics covered in their research include:

  • Genetic Associations and Epidemiology
  • Genomics and Rare Diseases
  • Hemoglobinopathies and Related Disorders
  • Nutrition, Genetics, and Disease
  • CRISPR and Genetic Engineering
  • Virus-based gene therapy research
  • Spinal Fractures and Fixation Techniques

Their recent publications include:

  • "CRISPR-Cas9 Gene Editing for Sickle Cell Disease and β-Thalassemia" (2020), New England Journal of Medicine
  • "Inaxaplin for Proteinuric Kidney Disease in Persons with Two APOL1 Variants" (2023), New England Journal of Medicine
  • "The Type 2 Diabetes Knowledge Portal: An open access genetic resource dedicated to type 2 diabetes and related traits" (2023), Cell Metabolism
  • "Analysis of protein-coding genetic variation in 60,706 humans" (2020), UNC Libraries
  • "Specificity of CRISPR-Cas9 Editing in Exagamglogene Autotemcel" (2024), New England Journal of Medicine

Frequent collaborators include:

  • Michael Boehnke
  • Angela Yen
  • Mark I. McCarthy
  • Gonçalo R. Abecasis
  • José C. Florez

David Altshuler's work has appeared repeatedly in several publication venues, such as:

  • UNC Libraries
  • New England Journal of Medicine
  • bioRxiv (Cold Spring Harbor Laboratory)
  • Cell Metabolism
  • Yearbook of Pediatric Endocrinology

Throughout their career, Altshuler has been recognized with several awards, including:

  • Fellow of the American Academy of Arts and Sciences (2013)
  • Curt Stern Award, American Society of Human Genetics (2011)
  • Member of the National Academy of Medicine (NAM) (2010)
  • Member of the Association of American Physicians

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

  • A global reference for human genetic variation.

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

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

    Goncalo R Abecasis;Adam Auton;Lisa D Brooks

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

    Mark A DePristo;Eric Banks;Ryan Poplin;Kiran V Garimella

  • 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

  • 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

  • A Map of Human Genome Variation From Population-Scale Sequencing

    Gonçalo R Abecasis;David Altshuler;David Altshuler;Adam Auton

  • The Structure of Haplotype Blocks in the Human Genome

    Stacey B. Gabriel;Stephen F. Schaffner;Huy Nguyen;Jamie M. Moore

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

    Geraldine A. Van der Auwera;Mauricio O. Carneiro;Christopher Hartl;Ryan Poplin

  • The International HapMap Project

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

  • A haplotype map of the human genome

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

  • A second generation human haplotype map of over 3.1 million SNPs

    Kelly A. Frazer;Dennis G. Ballinger;David R. Cox;David A. Hinds

  • Integrating common and rare genetic variation in diverse human populations

    D M Altshuler;R A Gibbs;L Peltonen

  • Age-Related Clonal Hematopoiesis Associated with Adverse Outcomes

    Siddhartha Jaiswal;Pierre Fontanillas;Jason Flannick;Jason Flannick;Alisa Manning

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

    Ravi Sachidanandam;David Weissman;Steven C. Schmidt;Jerzy M. Kakol

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

    Tanya M. Teslovich;Kiran Musunuru;Albert V. Smith;Andrew C. Edmondson

  • A reference panel of 64,976 haplotypes for genotype imputation

    Shane McCarthy;Sayantan Das;Warren Kretzschmar;Olivier Delaneau

  • Genome-Wide Association Analysis Identifies Loci for Type 2 Diabetes and Triglyceride Levels

    Richa Saxena;Benjamin F. Voight;Valeriya Lyssenko;Noël P. Burtt

  • Charaterization of single nucleotide polymorphisms in coding regions of human genes

    David Altshuler;Michele Cargill;George Q. Daley;George Q. Daley;James S. Ireland

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

    Benjamin F. Voight;Benjamin F. Voight;Benjamin F. Voight;Gina M. Peloso;Gina M. Peloso;Marju Orho-Melander;Ruth Frikke-Schmidt

Frequent Co-Authors

Mark J. Daly
Mark J. Daly Massachusetts General Hospital
Leif Groop
Leif Groop Lund University
Joel N. Hirschhorn
Joel N. Hirschhorn Boston Children's Hospital
Benjamin F. Voight
Benjamin F. Voight University of Pennsylvania
Sekar Kathiresan
Sekar Kathiresan Harvard University
Jose C. Florez
Jose C. Florez Harvard University
Michael Boehnke
Michael Boehnke University of Michigan–Ann Arbor
Stacey Gabriel
Stacey Gabriel Broad Institute
Gonçalo R. Abecasis
Gonçalo R. Abecasis University of Michigan–Ann Arbor

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