Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/55105
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Type: Journal article
Title: A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
Author: Tarpey, P.
Smith, R.
Pleasance, E.
Whibley, A.
Edkins, S.
Hardy, C.
O'Meara, S.
Latimer, C.
Dicks, E.
Menzies, A.
Stephens, P.
Blow, M.
Greenman, C.
Xue, Y.
Tyler-Smith, C.
Thompson, D.
Gray, K.
Andrews, J.
Barthorpe, S.
Buck, G.
et al.
Citation: Nature Genetics, 2009; 41(5):535-543
Publisher: Nature Publishing Group
Issue Date: 2009
ISSN: 1061-4036
1546-1718
Statement of
Responsibility: 
Patrick S Tarpey...Cheryl Shoubridge, Mark Corbett, Eric Haan...Tod Fullston...Jozef Gecz... et al.
Abstract: Large-scale systematic resequencing has been proposed as the key future strategy for the discovery of rare, disease-causing sequence variants across the spectrum of human complex disease. We have sequenced the coding exons of the X chromosome in 208 families with X-linked mental retardation (XLMR), the largest direct screen for constitutional disease-causing mutations thus far reported. The screen has discovered nine genes implicated in XLMR, including SYP, ZNF711 and CASK reported here, confirming the power of this strategy. The study has, however, also highlighted issues confronting whole-genome sequencing screens, including the observation that loss of function of 1% or more of X-chromosome genes is compatible with apparently normal existence.
Keywords: Chromosomes, Human, X; Humans; Mental Retardation, X-Linked; Chromosome Mapping; Pedigree; Sequence Analysis, DNA; Exons; Female; Male; Genetic Variation
RMID: 0020090591
DOI: 10.1038/ng.367
Appears in Collections:Paediatrics publications

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