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Genetics

D-Index
66
Citations
115934
World Ranking
2555
National Ranking
1134

Overview

Sean Humphray is affiliated with Illumina in the United States. Their research primarily focuses on Biochemistry, Genetics, and Molecular Biology, with specific attention to Genetics, Molecular Biology, Plant Science, Pathology and Forensic Medicine, and Cancer Research. The main topics covered in their research include Genomics and Rare Diseases, Chromosomal and Genetic Variations, Genomics and Phylogenetic Studies, RNA and protein synthesis mechanisms, Genetic factors in colorectal cancer, Genomic variations and chromosomal abnormalities, and Cancer Genomics and Diagnostics.

Humphray's recent publications illustrate involvement in a variety of genomic and clinical research areas:

  • Sequence and comparative analysis of the chicken genome provide unique perspectives on vertebrate evolution (2021, Kent Academic Repository (University of Kent))
  • Whole-genome sequencing of patients with rare diseases in a national health system (2021, Yearbook of pediatric endocrinology)
  • Clinical Impact of Ultra-Fast Whole Genome Sequencing in Paediatric Haematology-Oncology Practice (2025, bioRxiv (Cold Spring Harbor Laboratory))
  • Utility of Whole Genome Sequencing in Cerebral Palsy - A UK Paediatric Pilot Study (2025, SSRN Electronic Journal)

Frequent co-authors collaborating with Humphray include:

  • David Bentley
  • Kate Downes
  • João M.L. Dias
  • Taksina Newington
  • Zoya Kingsbury

Their work appears across several publication venues related to genomics and pediatric research:

  • Kent Academic Repository (University of Kent)
  • Yearbook of pediatric endocrinology
  • bioRxiv (Cold Spring Harbor Laboratory)
  • SSRN Electronic Journal

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

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

    Goncalo R Abecasis;Adam Auton;Lisa D Brooks

  • Table S2: Trans-factors and trinucleotide repeat instability Trans-factor

    Arturo López Castel;John D Cleary;Christopher E Pearson

  • The zebrafish reference genome sequence and its relationship to the human genome.

    Kerstin Howe;Matthew D. Clark;Carlos F. Torroja;Carlos F. Torroja;James Torrance

  • Accurate whole human genome sequencing using reversible terminator chemistry

    David R. Bentley;Shankar Balasubramanian;Harold P. Swerdlow;Harold P. Swerdlow;Geoffrey P. Smith

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

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

  • Analysis of Circulating Tumor DNA to Monitor Metastatic Breast Cancer

    Sarah-Jane Dawson;Dana W Y Tsui;Muhammed Murtaza;Heather Biggs

  • A comprehensive catalogue of somatic mutations from a human cancer genome

    Erin D. Pleasance;R. Keira Cheetham;Philip J. Stephens;David J. Mcbride

  • Genomic sequence of the pathogenic and allergenic filamentous fungus Aspergillus fumigatus

    William C. Nierman;William C. Nierman;Arnab Pain;Michael J. Anderson;Jennifer R. Wortman;Jennifer R. Wortman

  • Analyses of pig genomes provide insight into porcine demography and evolution

    Martien A. M. Groenen;Alan L. Archibald;Hirohide Uenishi;Christopher K. Tuggle

  • Non-invasive analysis of acquired resistance to cancer therapy by sequencing of plasma DNA

    Muhammed Murtaza;Sarah-Jane Dawson;Dana W. Y. Tsui;Davina Gale

  • The Medicago genome provides insight into the evolution of rhizobial symbioses

    Nevin D Young;Frédéric Debellé;Frédéric Debellé;Giles E D Oldroyd;Rene Geurts

  • Mapping copy number variation by population-scale genome sequencing

    Ryan E. Mills;Klaudia Walter;Chip Stewart;Robert E. Handsaker

  • Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas

    Claire Palles;Jean-Baptiste Cazier;Kimberley M Howarth;Enric Domingo

  • A global reference for human genetic variation

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

  • A physical map of the human genome.

    John Douglas Mcpherson;Marco Marra;Marco Marra;La Deana Hillier;Robert H. Waterston

  • A Novel CpG Island Set Identifies Tissue-Specific Methylation at Developmental Gene Loci

    Robert Illingworth;Alastair Kerr;Dina DeSousa;Helle Jørgensen

  • Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units

    Carol Jean Saunders;Neil Andrew Miller;Neil Andrew Miller;Sarah Elizabeth Soden;Sarah Elizabeth Soden;Darrell Lee Dinwiddie

  • DNA sequence and analysis of human chromosome 9

    A J Mungall;S A Palmer;S K Sims;C A Edwards

Frequent Co-Authors

Jane Rogers
Jane Rogers Earlham Institute
David Bentley
David Bentley University of Colorado Denver
Michael A. Quail
Michael A. Quail Wellcome Sanger Institute
Ian Dunham
Ian Dunham European Bioinformatics Institute
Pieter J. de Jong
Pieter J. de Jong UCSF Benioff Children's Hospital
David Haussler
David Haussler University of California, Santa Cruz
Charles Lee
Charles Lee The Jackson Laboratory
Peter Donnelly
Peter Donnelly University of Oxford
Richard Durbin
Richard Durbin University of Cambridge
Evan E. Eichler
Evan E. Eichler University of Washington

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