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dc.contributor.authorStratton, M
dc.date.accessioned2018-06-11T10:16:55Z
dc.date.issued2009-05
dc.identifier5
dc.identifier.citationNATURE GENETICS, 2009, 41 pp. 535 - 543
dc.identifier.urihttps://repository.icr.ac.uk/handle/internal/1799
dc.description.abstractLarge-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.
dc.format.extent535 - 543
dc.languageeng
dc.language.isoeng
dc.titleA systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
dc.typeJournal Article
rioxxterms.licenseref.startdate2009-05
rioxxterms.typeJournal Article/Review
dc.relation.isPartOfNATURE GENETICS
pubs.noteskeywords: HUMAN GENOME; PROTEIN EVOLUTION; CANCER GENOMES; DNA-SEQUENCE; MUTATIONS; SELECTION; GENETICS; DISEASE; GENES; CONSERVATION
pubs.notesNot known
pubs.organisational-group/ICR
pubs.organisational-group/ICR/Primary Group
pubs.organisational-group/ICR/Primary Group/ICR Divisions
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research/Genetic Susceptibility
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Genetic Susceptibility
pubs.organisational-group/ICR
pubs.organisational-group/ICR/Primary Group
pubs.organisational-group/ICR/Primary Group/ICR Divisions
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Breast Cancer Research/Genetic Susceptibility
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Genetics and Epidemiology/Genetic Susceptibility
pubs.volume41en_US
pubs.embargo.termsNot known
pubs.oa-locationhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC2872007/pdf/ukmss-30579.pdf
icr.researchteamGenetic Susceptibilityen_US
dc.contributor.icrauthorStratton, Michaelen


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