File Download

There are no files associated with this item.

  Links for fulltext
     (May Require Subscription)
Supplementary

Article: Phen-gen: Combining phenotype and genotype to analyze rare disorders

TitlePhen-gen: Combining phenotype and genotype to analyze rare disorders
Authors
Issue Date2014
Citation
Nature Methods, 2014, v. 11, n. 9, p. 935-937 How to Cite?
AbstractWe introduce Phen-Gen, a method that combines patients' disease symptoms and sequencing data with prior domain knowledge to identify the causative genes for rare disorders. Simulations revealed that the causal variant was ranked first in 88% of cases when it was a coding variant-a 52% advantage over a genotype-only approach-and Phen-Gen outperformed other existing prediction methods by 13-58%. If disease etiology was unknown, the causal variant was assigned the top rank in 71% of simulations. Phen-Gen is available at http://phen-gen.org/.
Persistent Identifierhttp://hdl.handle.net/10722/254437
ISSN
2015 Impact Factor: 25.328
2015 SCImago Journal Rankings: 21.715

 

DC FieldValueLanguage
dc.contributor.authorJaved, Asif-
dc.contributor.authorAgrawal, Saloni-
dc.contributor.authorNg, Pauline C.-
dc.date.accessioned2018-06-19T15:40:32Z-
dc.date.available2018-06-19T15:40:32Z-
dc.date.issued2014-
dc.identifier.citationNature Methods, 2014, v. 11, n. 9, p. 935-937-
dc.identifier.issn1548-7091-
dc.identifier.urihttp://hdl.handle.net/10722/254437-
dc.description.abstractWe introduce Phen-Gen, a method that combines patients' disease symptoms and sequencing data with prior domain knowledge to identify the causative genes for rare disorders. Simulations revealed that the causal variant was ranked first in 88% of cases when it was a coding variant-a 52% advantage over a genotype-only approach-and Phen-Gen outperformed other existing prediction methods by 13-58%. If disease etiology was unknown, the causal variant was assigned the top rank in 71% of simulations. Phen-Gen is available at http://phen-gen.org/.-
dc.languageeng-
dc.relation.ispartofNature Methods-
dc.titlePhen-gen: Combining phenotype and genotype to analyze rare disorders-
dc.typeArticle-
dc.description.natureLink_to_subscribed_fulltext-
dc.identifier.doi10.1038/nmeth.3046-
dc.identifier.pmid25086502-
dc.identifier.scopuseid_2-s2.0-84921633944-
dc.identifier.volume11-
dc.identifier.issue9-
dc.identifier.spage935-
dc.identifier.epage937-
dc.identifier.eissn1548-7105-

Export via OAI-PMH Interface in XML Formats


OR


Export to Other Non-XML Formats