Publications Repository

Publications Repository

View item 
  •   Home
  • ICR Divisions
  • Breast Cancer Research
  • View item
  • Home
  • ICR Divisions
  • Breast Cancer Research
  • View item
JavaScript is disabled for your browser. Some features of this site may not work without it.

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

Thumbnail
Date
2009-05
ICR Author
Stratton, Michael
Author
Stratton, M
Type
Journal Article
Metadata
Show full item record
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.
URI
https://repository.icr.ac.uk/handle/internal/1799
xmlui.dri2xhtml.METS-1.0.item-oa-location
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2872007/pdf/ukmss-30579.pdf
Collections
  • Breast Cancer Research
  • Genetics and Epidemiology
Research team
Genetic Susceptibility
Language
eng
License start date
2009-05
Citation
NATURE GENETICS, 2009, 41 pp. 535 - 543

Browse

All of ICR repositoryICR DivisionsBy issue dateAuthorsTitlesPublication TypesThis collectionBy issue dateAuthorsTitlesPublication Types
  • Login
  • Registered office: The Institute of Cancer Research, 123 Old Brompton Road, London, SW7 3RP
    A Charity, Not for Profit. Company Limited by Guarantee.
    Registered in England No. 534147. VAT Registration No. GB 849 0581 02.