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dc.contributor.authorRamos, EM
dc.contributor.authorDin-Lovinescu, C
dc.contributor.authorBerg, JS
dc.contributor.authorBrooks, LD
dc.contributor.authorDuncanson, A
dc.contributor.authorDunn, M
dc.contributor.authorGood, P
dc.contributor.authorHubbard, TJP
dc.contributor.authorJarvik, GP
dc.contributor.authorO'Donnell, C
dc.contributor.authorSherry, ST
dc.contributor.authorAronson, N
dc.contributor.authorBiesecker, LG
dc.contributor.authorBlumberg, B
dc.contributor.authorCalonge, N
dc.contributor.authorColhoun, HM
dc.contributor.authorEpstein, RS
dc.contributor.authorFlicek, P
dc.contributor.authorGordon, ES
dc.contributor.authorGreen, ED
dc.contributor.authorGreen, RC
dc.contributor.authorHurles, M
dc.contributor.authorKawamoto, K
dc.contributor.authorKnaus, W
dc.contributor.authorLedbetter, DH
dc.contributor.authorLevy, HP
dc.contributor.authorLyon, E
dc.contributor.authorMaglott, D
dc.contributor.authorMcLeod, HL
dc.contributor.authorRahman, N
dc.contributor.authorRandhawa, G
dc.contributor.authorWicklund, C
dc.contributor.authorManolio, TA
dc.contributor.authorChisholm, RL
dc.contributor.authorWilliams, MS
dc.date.accessioned2018-06-13T10:01:44Z
dc.date.issued2014-03-13
dc.identifier.citationAmerican journal of medical genetics. Part C, Seminars in medical genetics, 2014, 166C (1), pp. 93 - 104
dc.identifier.issn1552-4868
dc.identifier.urihttps://repository.icr.ac.uk/handle/internal/1851
dc.identifier.eissn1552-4876
dc.identifier.doi10.1002/ajmg.c.31386
dc.description.abstractGenome-wide association studies, DNA sequencing studies, and other genomic studies are finding an increasing number of genetic variants associated with clinical phenotypes that may be useful in developing diagnostic, preventive, and treatment strategies for individual patients. However, few variants have been integrated into routine clinical practice. The reasons for this are several, but two of the most significant are limited evidence about the clinical implications of the variants and a lack of a comprehensive knowledge base that captures genetic variants, their phenotypic associations, and other pertinent phenotypic information that is openly accessible to clinical groups attempting to interpret sequencing data. As the field of medicine begins to incorporate genome-scale analysis into clinical care, approaches need to be developed for collecting and characterizing data on the clinical implications of variants, developing consensus on their actionability, and making this information available for clinical use. The National Human Genome Research Institute (NHGRI) and the Wellcome Trust thus convened a workshop to consider the processes and resources needed to: (1) identify clinically valid genetic variants; (2) decide whether they are actionable and what the action should be; and (3) provide this information for clinical use. This commentary outlines the key discussion points and recommendations from the workshop.
dc.formatPrint-Electronic
dc.format.extent93 - 104
dc.languageeng
dc.language.isoeng
dc.rights.urihttps://www.rioxx.net/licenses/all-rights-reserved
dc.subjectHumans
dc.subjectInformation Dissemination
dc.subjectPhenotype
dc.subjectEducation
dc.subjectMedical Informatics
dc.subjectUnited States
dc.subjectNational Human Genome Research Institute (U.S.)
dc.subjectGenetic Variation
dc.subjectPrecision Medicine
dc.titleCharacterizing genetic variants for clinical action.
dc.typeJournal Article
rioxxterms.versionofrecord10.1002/ajmg.c.31386
rioxxterms.licenseref.urihttps://www.rioxx.net/licenses/all-rights-reserved
rioxxterms.licenseref.startdate2014-03-13
rioxxterms.typeJournal Article/Review
dc.relation.isPartOfAmerican journal of medical genetics. Part C, Seminars in medical genetics
pubs.issue1
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.publication-statusPublished
pubs.volume166C
pubs.embargo.termsNot known
icr.researchteamGenetic Susceptibilityen_US
dc.contributor.icrauthorRahman, Saberaen


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