World's Best Scientists 2026 revealed!
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Best Scientists
2025
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Genetics
USA
2026

D-Index & Metrics

Best Scientists

D-Index
192
Citations
212608
World Ranking
382
National Ranking
254

Genetics

D-Index
198
Citations
227912
World Ranking
24
National Ranking
16

Medicine

D-Index
197
Citations
227304
World Ranking
200
National Ranking
133

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
  • 2022 - Research.com Genetics and Molecular Biology in United States Leader Award
  • 2017 - Member of the National Academy of Medicine (NAM)
  • 2012 - Member of the National Academy of Sciences
  • 2008 - Curt Stern Award, American Society of Human Genetics
  • 2006 - Fellow of the American Association for the Advancement of Science (AAAS)

Overview

Evan E. Eichler is affiliated with the University of Washington in the United States and has a research focus situated primarily in the field of Biochemistry, Genetics and Molecular Biology. Their scholarly output includes 493 publications within this main field, with significant contributions to subfields such as Molecular Biology, Genetics, and Plant Science. Additional areas of study include Cognitive Neuroscience and Cancer Research.

The scientist's work covers several key topics, including Chromosomal and Genetic Variations, Genomics and Phylogenetic Studies, Genomic variations and chromosomal abnormalities, and Genomics and Rare Diseases. Other notable research interests encompass Genetics and Neurodevelopmental Disorders, Genomics and Chromatin Dynamics, and Autism Spectrum Disorder Research.

Frequent publication venues for this researcher reflect a presence in high-impact and specialized journals. These include:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • Nature
  • Zenodo (CERN European Organization for Nuclear Research)
  • Genome Research
  • The American Journal of Human Genetics

Eichler's recent papers include:

  • The complete sequence of a human genome, 2022, Science
  • Long-read human genome sequencing and its applications, 2020, Nature Reviews Genetics
  • High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios, 2022, Cell
  • HiCanu: accurate assembly of segmental duplications, satellites, and allelic variants from high-fidelity long reads, 2020, Genome Research
  • Telomere-to-telomere assembly of a complete human X chromosome, 2020, Nature

Frequent collaborations have been established with several co-authors, reflecting ongoing partnerships within the genomic and molecular biology research communities. These co-authors include:

  • Katherine M. Munson
  • David Porubskỳ
  • William T. Harvey
  • Tobias Marschall
  • Kendra Hoekzema

Eichler has received multiple awards recognizing their contributions to genetic and genomic sciences. These awards include membership in the National Academy of Sciences awarded in 2012 and the National Academy of Medicine in 2017. Further honors include the Curt Stern Award from the American Society of Human Genetics in 2008 and being named a Fellow of the American Association for the Advancement of Science in 2006.

Best Publications

  • Initial sequencing and analysis of the human genome.

    Eric S. Lander;Lauren M. Linton;Bruce Birren;Chad Nusbaum

  • A global reference for human genetic variation.

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

  • Finding the missing heritability of complex diseases

    Teri A. Manolio;Francis S. Collins;Nancy J. Cox;David B. Goldstein

  • A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

    Alan E. Renton;Elisa Majounie;Adrian James Waite;Javier Simón-Sánchez;Javier Simón-Sánchez

  • A Draft Sequence of the Neandertal Genome

    Richard E. Green;Johannes Krause;Adrian W. Briggs;Tomislav Maricic

  • Nonhybrid, finished microbial genome assemblies from long-read SMRT sequencing data

    Chen Shan Chin;David H. Alexander;Patrick Marks;Aaron A. Klammer

  • Consensus Statement : Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

    David T. Miller;Margaret P. Adam;Margaret P. Adam;Swaroop Aradhya;Leslie G. Biesecker

  • The contribution of de novo coding mutations to autism spectrum disorder

    Ivan Iossifov;Brian J. O'Roak;Stephan J. Sanders;Stephan J. Sanders;Michael Ronemus

  • Sequence and comparative analysis of the chicken genome provide unique perspectives on vertebrate evolution

    Ladeana W. Hillier;Webb Miller;Ewan Birney;Wesley Warren

  • Genome sequence of the Brown Norway rat yields insights into mammalian evolution

    Richard A. Gibbs;George M. Weinstock;Michael L. Metzker;Donna M. Muzny

  • Targeted capture and massively parallel sequencing of 12 human exomes

    Sarah B H Ng;Emily H. Turner;Peggy D. Robertson;Steven D. Flygare

  • Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

    Brian J. O’Roak;Laura Vives;Santhosh Girirajan;Emre Karakoc

  • The complete genome sequence of a Neanderthal from the Altai Mountains

    Kay Prüfer;Fernando Racimo;Nick Patterson;Flora Jay

  • An integrated map of structural variation in 2,504 human genomes

    Peter H. Sudmant;Tobias Rausch;Eugene J. Gardner;Robert E. Handsaker;Robert E. Handsaker

  • Initial sequence of the chimpanzee genome and comparison with the human genome

    Tarjei S. Mikkelsen;LaDeana W. Hillier

  • Genetic history of an archaic hominin group from Denisova Cave in Siberia

    David Reich;Richard E. Green;Martin Kircher;Johannes Krause

  • A high-coverage genome sequence from an archaic Denisovan individual

    Matthias Meyer;Martin Kircher;Marie Theres Gansauge;Heng Li

  • A comparative encyclopedia of DNA elements in the mouse genome

    Feng Yue;Feng Yue;Yong Cheng;Alessandra Breschi;Jeff Vierstra

  • Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia

    Tom Walsh;Jon M. McClellan;Shane E. McCarthy;Anjené M. Addington

  • Missing heritability and strategies for finding the underlying causes of complex disease

    Evan E. Eichler;Jonathan Flint;Greg Gibson;Augustine Kong

Frequent Co-Authors

Can Alkan
Can Alkan Bilkent University
Raphael Bernier
Raphael Bernier University of Washington
Mario Ventura
Mario Ventura University of Bari Aldo Moro
Carl Baker
Carl Baker National Institute of Arthritis and Musculoskeletal and Skin Diseases
Bradley P. Coe
Bradley P. Coe University of Washington
Tomas Marques-Bonet
Tomas Marques-Bonet Pompeu Fabra University
Richard K. Wilson
Richard K. Wilson Nationwide Children's Hospital
Heather C. Mefford
Heather C. Mefford University of Washington
Santhosh Girirajan
Santhosh Girirajan Pennsylvania State University
Tina Graves
Tina Graves Washington University in St. Louis

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