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http://hdl.handle.net/1942/34320
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DC Field | Value | Language |
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dc.contributor.author | Sifrim, A | - |
dc.contributor.author | Popovic, D | - |
dc.contributor.author | Tranchevent, LC | - |
dc.contributor.author | Ardeshirdavani, A | - |
dc.contributor.author | Sakai, R | - |
dc.contributor.author | Konings, P | - |
dc.contributor.author | Vermeesch, JR | - |
dc.contributor.author | AERTS, Jan | - |
dc.contributor.author | DE MOOR, Bart | - |
dc.contributor.author | Moreau, Y | - |
dc.date.accessioned | 2021-06-23T07:21:32Z | - |
dc.date.available | 2021-06-23T07:21:32Z | - |
dc.date.issued | 2013 | - |
dc.date.submitted | 2021-06-22T11:42:10Z | - |
dc.identifier.citation | NATURE METHODS, 10 (11) , p. 1083 -1084 | - |
dc.identifier.uri | http://hdl.handle.net/1942/34320 | - |
dc.description.abstract | Massively parallel sequencing greatly facilitates the discovery of novel disease genes causing Mendelian and oligogenic disorders. However, many mutations are present in any individual genome, and identifying which ones are disease causing remains a largely open problem. We introduce eXtasy, an approach to prioritize nonsynonymous single-nucleotide variants (nSNSNVs) that substantially improves prediction of disease-causing variants in exome sequencing data by integrating variant impact prediction, haploinsufficiency prediction and phenotype-specific gene prioritization. | - |
dc.language.iso | en | - |
dc.publisher | NATURE PUBLISHING GROUP | - |
dc.title | eXtasy: variant prioritization by genomic data fusion | - |
dc.type | Journal Contribution | - |
dc.identifier.epage | 1084 | - |
dc.identifier.issue | 11 | - |
dc.identifier.spage | 1083 | - |
dc.identifier.volume | 10 | - |
local.bibliographicCitation.jcat | A1 | - |
local.publisher.place | MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND | - |
local.type.refereed | Refereed | - |
local.type.specified | Article | - |
dc.identifier.doi | 10.1038/nmeth.2656 | - |
dc.identifier.isi | WOS:000326507600020 | - |
local.provider.type | Web of Science | - |
local.uhasselt.international | no | - |
item.fullcitation | Sifrim, A; Popovic, D; Tranchevent, LC; Ardeshirdavani, A; Sakai, R; Konings, P; Vermeesch, JR; AERTS, Jan; DE MOOR, Bart & Moreau, Y (2013) eXtasy: variant prioritization by genomic data fusion. In: NATURE METHODS, 10 (11) , p. 1083 -1084. | - |
item.fulltext | No Fulltext | - |
item.contributor | Sifrim, A | - |
item.contributor | Popovic, D | - |
item.contributor | Tranchevent, LC | - |
item.contributor | Ardeshirdavani, A | - |
item.contributor | Sakai, R | - |
item.contributor | Konings, P | - |
item.contributor | Vermeesch, JR | - |
item.contributor | AERTS, Jan | - |
item.contributor | DE MOOR, Bart | - |
item.contributor | Moreau, Y | - |
item.accessRights | Closed Access | - |
crisitem.journal.issn | 1548-7091 | - |
crisitem.journal.eissn | 1548-7105 | - |
Appears in Collections: | Research publications |
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