Author details

Full Name

Sean Humphray

Affiliation

Illumina Ltd.

ORCID

Career Start Year

1996

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
34758253	100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.	N Engl J Med	2021
27903644	A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree.	Genome Res	2017
29263824	Base resolution maps reveal the importance of 5-hydroxymethylcytosine in a human glioblastoma.	NPJ Genom Med	2017
28842795	X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1.	Neurogenetics	2017
28887402	Detection of long repeat expansions from PCR-free whole-genome sequence data.	Genome Res	2017
25732040	Glioblastoma adaptation traced through decline of an IDH1 clonal driver and macro-evolution of a double-minute chromosome.	Ann Oncol	2015
26530965	Multifocal clonal evolution characterized using circulating tumour DNA in a case of metastatic breast cancer.	Nat Commun	2015
26192915	Whole-genome sequencing provides new insights into the clonal architecture of Barrett's esophagus and esophageal adenocarcinoma.	Nat Genet	2015
25916844	TP53 mutations, tetraploidy and homologous recombination repair defects in early stage high-grade serous ovarian cancer.	Nucleic Acids Res	2015
25985138	Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.	Nat Genet	2015
23817176	Intraclonal heterogeneity is a critical early event in the development of myeloma and precedes the development of clinical symptoms.	Leukemia	2014
23563269	Non-invasive analysis of acquired resistance to cancer therapy by sequencing of plasma DNA.	Nature	2013
24154874	APOBEC3B upregulation and genomic mutation patterns in serous ovarian carcinoma.	Cancer Res	2013
23484797	Analysis of circulating tumor DNA to monitor metastatic breast cancer.	N Engl J Med	2013
22341448	Genome sequencing and analysis of the Tasmanian devil and its transmissible cancer.	Cell	2012
23035047	Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units.	Sci Transl Med	2012
23151582	Analyses of pig genomes provide insight into porcine demography and evolution.	Nature	2012
22915640	Monitoring chronic lymphocytic leukemia progression by whole genome sequencing reveals heterogeneous clonal evolution patterns.	Blood	2012
22089132	The Medicago genome provides insight into the evolution of rhizobial symbioses.	Nature	2011
22303339	Use of Genome Sequence Information for Meat Quality Trait QTL Mining for Causal Genes and Mutations on Pig Chromosome 17.	Front Genet	2011
20016485	A comprehensive catalogue of somatic mutations from a human cancer genome.	Nature	2010
21148394	Signatures of adaptation to obligate biotrophy in the Hyaloperonospora arabidopsidis genome.	Science	2010
19909804	Genome-wide end-sequenced BAC resources for the NOD/MrkTac() and NOD/ShiLtJ() mouse genomes.	Genomics	2010
19007914	Expression screening and annotation of a zebrafish myoblast cDNA library.	Gene Expr Patterns	2009
19557196	Evolutionary breakpoints in the gibbon suggest association between cytosine methylation and karyotype evolution.	PLoS Genet	2009
18232738	A novel CpG island set identifies tissue-specific methylation at developmental gene loci.	PLoS Biol	2008
18791259	Convergent evolution in the genetic basis of MÃ¼llerian mimicry in heliconius butterflies.	Genetics	2008
18987734	Accurate whole human genome sequencing using reversible terminator chemistry.	Nature	2008
18510587	Sequence differentiation in regions identified by a genome scan for local adaptation.	Mol Ecol	2008
18246075	A systematic library for comprehensive overexpression screens in Saccharomyces cerevisiae.	Nat Methods	2008
17705864	Lessons learned from the initial sequencing of the pig genome: comparative analysis of an 8 Mb region of pig chromosome 17.	Genome Biol	2007
17895424	Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21.	Genome Res	2007
17597531	Definition of the zebrafish genome using flow cytometry and cytogenetic mapping.	BMC Genomics	2007
17625002	A high utility integrated map of the pig genome.	Genome Biol	2007
16624504	Molecular characterization of the porcine deleted in malignant brain tumors 1 gene (DMBT1).	Gene	2006
17002517	A conserved supergene locus controls colour pattern diversity in Heliconius butterflies.	PLoS Biol	2006
17196042	A high-resolution map of synteny disruptions in gibbon and human genomes.	PLoS Genet	2006
17122085	Accurate and reliable high-throughput detection of copy number variation in the human genome.	Genome Res	2006
16738944	Identification of a single killer immunoglobulin-like receptor (KIR) gene in the porcine leukocyte receptor complex on chromosome 6q.	Immunogenetics	2006
16625196	DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.	Nature	2006
15590942	Transcriptome analysis for the chicken based on 19,626 finished cDNA sequences and 485,337 expressed sequence tags.	Genome Res	2005
18629187	Swine Genome Sequencing Consortium (SGSC): a strategic roadmap for sequencing the pig genome.	Comp Funct Genomics	2005
16257172	A genome-wide, end-sequenced 129Sv BAC library resource for targeting vector construction.	Genomics	2005
16252241	Evidence for widespread reticulate evolution within human duplicons.	Am J Hum Genet	2005
15164053	DNA sequence and analysis of human chromosome 9.	Nature	2004
15602918	Bacterial artificial chromosome (BAC) clones and the current clone map of the zebrafish genome.	Methods Cell Biol	2004
15496470	Resolution of the novel immune-type receptor gene cluster in zebrafish.	Proc Natl Acad Sci U S A	2004
14707179	A whole-genome mouse BAC microarray with 1-Mb resolution for analysis of DNA copy number changes by array comparative genomic hybridization.	Genome Res	2004
14998527	Insight into the genome of Aspergillus fumigatus: analysis of a 922 kb region encompassing the nitrate assimilation gene cluster.	Fungal Genet Biol	2004
15140828	Complete MHC haplotype sequencing for common disease gene mapping.	Genome Res	2004

1 - 50 of 66

Andrew Cree

Baylor College of Medicine

Career Start Year 2005

Number of shared co-authors 75

Jeffrey A Rosenfeld

Cancer Institute of New Jersey

Career Start Year 2004

Number of shared co-authors 8

Jochen Hecht

The Barcelona Institute of Science and Technology

Career Start Year 2003

Number of shared co-authors 5

Christie L Kovar

Baylor College of Medicine

Career Start Year 2002

Number of shared co-authors 77

Ian Bosdet

University of British Columbia

Career Start Year 2002

Number of shared co-authors 37

Yaron S Butterfield

Brain Tumour Foundation of Canada

Career Start Year 2002

Number of shared co-authors 18

Robert Baertsch

Center for Biomolecular Science and Engineering, University of California

Career Start Year 2002

Number of shared co-authors 71

Martin S Taylor

Institute of Genetics and Cancer, University of Edinburgh

Career Start Year 2000

Number of shared co-authors 57

Hua Shen

Baylor College of Medicine Human Genome Sequencing Center

Career Start Year 2000

Number of shared co-authors 59

Paul Flicek

European Bioinformatics Institute

Career Start Year 1999

Number of shared co-authors 116

Xiangqun H Zheng

Zibo First Hospital

Career Start Year 1999

Number of shared co-authors 25

Adam Pavlicek

Monoceros Biosystems LLC

Career Start Year 1998

Number of shared co-authors 1

Alexandre Montpetit

McGill University and Genome Quebec Innovation Centre

Career Start Year 1998

Number of shared co-authors 48

Tina Graves

McDonnell Genome Institute, Washington University

Career Start Year 1998

Number of shared co-authors 79

Sarah J Wheelan

National Human Genome Research Institute, National Institutes of Health

Career Start Year 1998

Number of shared co-authors 18

Jay Shendure

University of Washington

Career Start Year 1996

Number of shared co-authors 35

Michael A Harris

Vici Syndrome Foundation

Career Start Year 1996

Number of shared co-authors 30

Wei-Wen Cai

College of Animal Science and Veterinary Medicine, Shenyang Agricultural University

Career Start Year 1995

Number of shared co-authors 4

Terence D Murphy

National Center for Biotechnology Information, National Institutes of Health

Career Start Year 1995

Number of shared co-authors 32

Jared C Roach

Institute for Systems Biology

Career Start Year 1995

Number of shared co-authors 5

Alejandro A Sch??ffer

National Cancer Institute, National Institutes of Health

Career Start Year 1993

Number of shared co-authors 9

Marie-Laure Yaspo

Max Planck Institute for Molecular Genetics

Career Start Year 1992

Number of shared co-authors 14

Samuel Levy

Bluestar Genomics Inc.

Career Start Year 1991

Number of shared co-authors 5

Thomas J Hudson

Ontario Institute for Cancer Research

Career Start Year 1991

Number of shared co-authors 70

Mark D Adams

Case Western Reserve University School of Medicine

Career Start Year 1989

Number of shared co-authors 59

Gustavo Glusman

Institute for Systems Biology

Career Start Year 1988

Number of shared co-authors 52

Shih-Queen Lee-Lin

National Human Genome Research Institute

Career Start Year 1988

Number of shared co-authors 7

Andreas Gnirke

The Center for Genome Architecture, Baylor College of Medicine

Career Start Year 1986

Number of shared co-authors 28

Donna R Maglott

National Center for Biotechnology Information, National Institutes of Health

Career Start Year 1976

Number of shared co-authors 79

Kelly A Frazer

University of California, USA Institute for Genomic Medicine

Career Start Year 1967

Number of shared co-authors 47

row(s) 1 - 30 of 30

David R Bentley

Illumina Cambridge Ltd.

Co-authored papers 26

Jane Rogers

The Wellcome Trust Sanger Institute

Co-authored papers 25

Mark T Ross

Illumina Cambridge Ltd.

Co-authored papers 11

Russell J Grocock

Illumina Ltd

Co-authored papers 11

Ian Dunham

European Bioinformatics Institute (EMBL-EBI)

Co-authored papers 10

Nigel P Carter

4Wellcome Trust Sanger Institute

Co-authored papers 10

Chris Clee

Co-authored papers 8

Robert W Plumb

Co-authored papers 7

Andrew J Mungall

Co-authored papers 7

Cordelia Langford

Co-authored papers 7

James G R Gilbert

Wellcome Sanger Institute

Co-authored papers 7

Stephan Beck

UCL Cancer Institute, University College London

Co-authored papers 7

Pieter J de Jong

Center for Genetics, Children's Hospital Oakland Research Institute

Co-authored papers 6

Tim Hubbard

Co-authored papers 6

Sarah Sims

Co-authored papers 6

Sarah E Hunt

European Bioinformatics Institute

Co-authored papers 6

Matthew C Jones

University of Cambridge

Co-authored papers 6

Kazutoyo Osoegawa

Co-authored papers 6

Lucy Matthews

University of Oxford

Co-authored papers 6

Richard Durbin

University of Cambridge

Co-authored papers 5

Stephen M J Searle

Wellcome Trust Sanger Institute

Co-authored papers 5

Panos Deloukas

William Harvey Research Institute, Queen Mary University of London

Co-authored papers 4

Laurens G Wilming

Co-authored papers 4

Jennifer Harrow

Co-authored papers 4

John Trowsdale

Co-authored papers 4

Rhian Gwilliam

The Wellcome Trust Sanger Institute

Co-authored papers 4

Stuart McLaren

Wellcome Trust Sanger Institute

Co-authored papers 4

Alan L Archibald

The Roslin Institute and R(D)SVS, University of Edinburgh

Co-authored papers 4

Adam Butler

Wellcome Sanger Institute

Co-authored papers 4

Carlos Caldas

Cancer Research UK Cambridge Institute, University of Cambridge

Co-authored papers 3

1 - 30

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