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Genetics
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2026

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Best Scientists

D-Index
169
Citations
128236
World Ranking
903
National Ranking
535

Genetics

D-Index
171
Citations
131777
World Ranking
67
National Ranking
36

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
  • 2019 - Richard Lounsbery Award, National Academy of Sciences and the French Academy of Sciences for his pioneering work and leadership in the second wave of genomics that is transforming genetics and medicine. Through his development of exome sequencing and other novel technologies he has defined new paradigms,,for implicating Mendelian disease genes interpreting genetic variation and single cell profiling of developmental lineages and gene regulation in whole organisms."
  • 2018 - Fellow of the American Association for the Advancement of Science (AAAS)
  • 2013 - National Institutes of Health Director's Pioneer Award Seattle
  • 2012 - Curt Stern Award, American Society of Human Genetics

Overview

Jay Shendure is affiliated with the University of Washington in the United States. Their research spans various aspects of genetics and molecular biology, with a strong focus on genomics, single-cell analysis, and genetic engineering techniques.

Their recent papers include:

  • "A human cell atlas of fetal gene expression" (2020), Science
  • "A brief history of human disease genetics" (2020), Nature
  • "CADD-Splice-improving genome-wide variant effect prediction using deep learning-derived splice scores" (2021), Genome Medicine
  • "High-content CRISPR screening" (2022), Nature Reviews Methods Primers
  • "A human cell atlas of fetal chromatin accessibility" (2020), Science

Frequent co-authors collaborating with Shendure include:

  • Lea M. Starita
  • Beth Martin
  • Helen Y. Chu
  • Cole Trapnell
  • Riza M. Daza

The main publication venues where Shendure's work appears are:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • Nature
  • Science
  • Cell
  • Nature Communications

Shendure's scientific work covers several primary fields of study, notably:

  • Biochemistry, Genetics and Molecular Biology
  • Medicine

Within these, the subfields they contribute to include:

  • Molecular Biology
  • Infectious Diseases
  • Epidemiology
  • Genetics
  • Cancer Research

The main research topics explored by Shendure encompass:

  • Single-cell and spatial transcriptomics
  • CRISPR and Genetic Engineering
  • Genomics and Chromatin Dynamics
  • RNA and protein synthesis mechanisms
  • RNA Research and Splicing
  • SARS-CoV-2 and COVID-19 Research
  • SARS-CoV-2 detection and testing

Jay Shendure has been recognized with several awards, including:

  • Richard Lounsbery Award from the National Academy of Sciences and the French Academy of Sciences (2019) for contributions to genomics and medicine through exome sequencing and single-cell profiling
  • Fellow of the American Association for the Advancement of Science (AAAS) (2018)
  • National Institutes of Health Director's Pioneer Award (2013)
  • Curt Stern Award from the American Society of Human Genetics (2012)

Best Publications

  • A general framework for estimating the relative pathogenicity of human genetic variants

    Martin Kircher;Daniela M Witten;Preti Jain;Brian J O'Roak;Brian J O'Roak

  • Next-generation DNA sequencing.

    Jay Shendure;Hanlee Ji

  • CADD: predicting the deleteriousness of variants throughout the human genome.

    Philipp Rentzsch;Daniela M. Witten;Gregory M. Cooper;Jay Shendure

  • The single-cell transcriptional landscape of mammalian organogenesis

    Junyue Cao;Malte Spielmann;Xiaojie Qiu;Xingfan Huang

  • 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

  • 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

  • Exome sequencing identifies the cause of a Mendelian disorder

    Sarah B H Ng;Kati J. Buckingham;Choli Lee;Abigail W. Bigham

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

    Kay Prüfer;Fernando Racimo;Nick Patterson;Flora Jay

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

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

  • Accurate Multiplex Polony Sequencing of an Evolved Bacterial Genome

    Jay Shendure;Gregory J. Porreca;Nikos B. Reppas;Xiaoxia Lin

  • Exome sequencing as a tool for Mendelian disease gene discovery

    Michael J. Bamshad;Sarah B. Ng;Abigail W. Bigham;Abigail W. Bigham;Holly K. Tabor;Holly K. Tabor

  • Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

    Sarah B. Ng;Abigail W. Bigham;Kati J. Buckingham;Mark C. Hannibal;Mark C. Hannibal

  • Integrative genome analyses identify key somatic driver mutations of small-cell lung cancer

    Martin Peifer;Lynnette Fernández-Cuesta;Martin L. Sos;Julie George

  • Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.

    Brian J. O’Roak;Laura Vives;Wenqing Fu;Jarrett D. Egertson

  • Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

    Brian J O'Roak;Pelagia Deriziotis;Pelagia Deriziotis;Choli Lee;Laura Vives

  • Target-enrichment strategies for next-generation sequencing

    Lira Mamanova;Alison J Coffey;Carol E Scott;Iwanka Kozarewa

  • Guidelines for investigating causality of sequence variants in human disease

    D G MacArthur;T A Manolio;D P Dimmock;H L Rehm

  • Chromosome-scale scaffolding of de novo genome assemblies based on chromatin interactions

    Joshua N Burton;Andrew Adey;Rupali P Patwardhan;Ruolan Qiu

  • A general framework for estimating the relative pathogenicity of human genetic variants

    Martin Kircher;Daniela M. Witten;Gregory M. Cooper;Jay Shendure

Frequent Co-Authors

Deborah A. Nickerson
Deborah A. Nickerson University of Washington
Michael J. Bamshad
Michael J. Bamshad University of Washington
Martin Kircher
Martin Kircher Charité - University Medicine Berlin
Evan E. Eichler
Evan E. Eichler University of Washington
William Stafford Noble
William Stafford Noble University of Washington
Jacob O. Kitzman
Jacob O. Kitzman University of Michigan–Ann Arbor
Brian J. O'Roak
Brian J. O'Roak Oregon Health & Science University
Cole Trapnell
Cole Trapnell University of Washington
George M. Church
George M. Church Harvard University
Suzanne M. Leal
Suzanne M. Leal Columbia University Medical Center

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