Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease.

2.50
Hdl Handle:
http://hdl.handle.net/11287/620883
Title:
Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease.
Authors:
Wakeling, M. N.; Laver, T. W.; Wright, C. F.; De Franco, Elisa; Stals, Karen; Patch, A-M; Hattersley, Andrew T.; Flanagan, S. E.; Ellard, Sian ( 0000-0002-7620-5526 )
Abstract:
One of the greatest challenges currently facing those studying Mendelian disease is identifying the pathogenic variant from the long list produced by a next-generation sequencing test. We investigate the predictive ability of homozygosity mapping for identifying the regions likely to contain the causative variant.
Citation:
Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease. 2018 Genet. Med.
Publisher:
Nature
Journal:
Genetics in medicine : official journal of the American College of Medical Genetics
Issue Date:
3-Oct-2018
URI:
http://hdl.handle.net/11287/620883
DOI:
10.1038/s41436-018-0281-4
PubMed ID:
30279471
Additional Links:
http://dx.doi.org/10.1038/s41436-018-0281-4
Type:
Journal Article
Language:
en
ISSN:
1530-0366
Appears in Collections:
Diabetes/Endocrine Services; Molecular Genetics; 2018 RD&E publications

Full metadata record

DC FieldValue Language
dc.contributor.authorWakeling, M. N.en
dc.contributor.authorLaver, T. W.en
dc.contributor.authorWright, C. F.en
dc.contributor.authorDe Franco, Elisaen
dc.contributor.authorStals, Karenen
dc.contributor.authorPatch, A-Men
dc.contributor.authorHattersley, Andrew T.en
dc.contributor.authorFlanagan, S. E.en
dc.contributor.authorEllard, Sianen
dc.date.accessioned2018-10-11T12:30:42Z-
dc.date.available2018-10-11T12:30:42Z-
dc.date.issued2018-10-03-
dc.identifier.citationHomozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease. 2018 Genet. Med.en
dc.identifier.issn1530-0366-
dc.identifier.pmid30279471-
dc.identifier.doi10.1038/s41436-018-0281-4-
dc.identifier.urihttp://hdl.handle.net/11287/620883-
dc.description.abstractOne of the greatest challenges currently facing those studying Mendelian disease is identifying the pathogenic variant from the long list produced by a next-generation sequencing test. We investigate the predictive ability of homozygosity mapping for identifying the regions likely to contain the causative variant.en
dc.language.isoenen
dc.publisherNatureen
dc.relation.urlhttp://dx.doi.org/10.1038/s41436-018-0281-4en
dc.rightsArchived with thanks to Genetics in medicine : official journal of the American College of Medical Geneticsen
dc.subjectWessex Classification Subject Headings::Oncology. Pathology.::Geneticsen
dc.titleHomozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease.en
dc.typeJournal Articleen
dc.identifier.journalGenetics in medicine : official journal of the American College of Medical Geneticsen
dc.type.versionIn press (epub ahead of print)en

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