S
Sean Humphray
Researcher at Illumina
Publications - 86
Citations - 69908
Sean Humphray is an academic researcher from Illumina. The author has contributed to research in topics: Genome & Contig. The author has an hindex of 53, co-authored 86 publications receiving 60294 citations. Previous affiliations of Sean Humphray include Wellcome Trust Sanger Institute & Washington University in St. Louis.
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Journal ArticleDOI
X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1.
Noriko Miyake,Nicole I. Wolf,Ferdy K. Cayami,Ferdy K. Cayami,Joanna Crawford,Annette Bley,Dorothy I. Bulas,Alex Conant,Stephen J. Bent,Karen W. Gripp,Andreas Hahn,Sean Humphray,Shihoko Kimura-Ohba,Zoya Kingsbury,Bryan R. Lajoie,Dennis Lal,Dennis Lal,Dimitra Micha,Amy Pizzino,Richard J. Sinke,Deborah A Sival,Irene Stolte-Dijkstra,Andrea Superti-Furga,Nicole Ulrick,Ryan J. Taft,Ryan J. Taft,Ryan J. Taft,Tsutomu Ogata,Keiichi Ozono,Naomichi Matsumoto,Bernd A. Neubauer,Cas Simons,Adeline Vanderver,Adeline Vanderver,Adeline Vanderver +34 more
TL;DR: It is hypothesize that AIFM1 functions in bone metabolism and myelination and is responsible for the unique phenotype in this condition.
Journal ArticleDOI
Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21
Robert Lyle,Paola Prandini,Kazutoyo Osoegawa,Boudewijn F.H. Ten Hallers,Sean Humphray,Baoli Zhu,Eduardo Eyras,Robert Castelo,Christine P. Bird,Sarantos Gagos,Carol Scott,Antony V. Cox,Samuel Deutsch,Catherine Ucla,Marc Cruts,Sophie Dahoun,Xinwei She,Frédérique Béna,Sheng Yue Wang,Christine Van Broeckhoven,Evan E. Eichler,Roderic Guigó,Jane Rogers,Pieter J. de Jong,Alexandre Reymond,Stylianos E. Antonarakis +25 more
TL;DR: An initial sequence of 1.1 Mb of the short arm of human chromosome 21 (HSA21p), estimated to be 10% of 21p, is described, which contains extensive euchromatic-like sequence and includes on average one transcript every 100 kb.
Journal ArticleDOI
Base resolution maps reveal the importance of 5-hydroxymethylcytosine in a human glioblastoma.
Eun-Ang Raiber,Dario Beraldi,Sergio Martínez Cuesta,Gordon R. McInroy,Zoya Kingsbury,Jennifer Becq,Terena James,Margarida Lopes,Kieren Allinson,Sarah F. Field,Sean Humphray,Thomas Santarius,Colin Watts,David Bentley,Shankar Balasubramanian +14 more
TL;DR: It is observed that cells neighbouring tumour cells display epigenetic alterations characteristic of the tumour itself although genetically they appear “normal”, showing the potential transfer of epigenetic information between cells that contributes to the intratumour heterogeneity of glioblastoma.
Journal Article
Swine genome sequencing consortium (SGSC) : a strategic roadmap for sequencing the pig genome : Comparative and Functional Genomics
Lawrence B. Schook,Jonathan E. Beever,Jane Rogers,Sean Humphray,Alan Archibald,Patrick Chardon,Denis Milan,Gary A. Rohrer,Kellye Eversole +8 more
TL;DR: The Swine Genome Sequencing Consortium (SGSC) was formed in 2003 by academic, government and industry representatives to provide international coordination for sequencing the pig genome as discussed by the authors, which has achieved significant progress towards the creation of a minimal tiling path (MTP).
Journal ArticleDOI
An integrated YAC map of the human X chromosome.
H. Roest Crollius,Mark T. Ross,Andrei Grigoriev,Andrei Grigoriev,C J Knights,E. Holloway,J Misfud,Kim K.C. Li,M Playford,Simon G. Gregory,Sean Humphray,Alison J. Coffey,C G See,S Marsh,Radost Vatcheva,J. Kumlien,T. Labella,V Lam,K H Rak,K Todd,Richard Mott,D Graeser,Gudrun A. Rappold,Günther Zehetner,Annemarie Poustka,Hans Lehrach +25 more
TL;DR: A YAC contig map of the X chromosome covering 125 Mb of DNA in 25 contigs and containing 906 YAC clones is constructed, which exceeds the coverage of recently reported X chromosome maps built as part of whole-genome YAC maps.