File Download
There are no files associated with this item.
Links for fulltext
(May Require Subscription)
- Publisher Website: 10.1038/nmeth.3046
- Scopus: eid_2-s2.0-84921633944
- PMID: 25086502
- WOS: WOS:000341409700022
- Find via
Supplementary
- Citations:
- Appears in Collections:
Article: Phen-gen: Combining phenotype and genotype to analyze rare disorders
Title | Phen-gen: Combining phenotype and genotype to analyze rare disorders |
---|---|
Authors | |
Issue Date | 2014 |
Citation | Nature Methods, 2014, v. 11, n. 9, p. 935-937 How to Cite? |
Abstract | We 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 Identifier | http://hdl.handle.net/10722/254437 |
ISSN | 2021 Impact Factor: 47.990 2020 SCImago Journal Rankings: 19.469 |
ISI Accession Number ID |
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Javed, Asif | - |
dc.contributor.author | Agrawal, Saloni | - |
dc.contributor.author | Ng, Pauline C. | - |
dc.date.accessioned | 2018-06-19T15:40:32Z | - |
dc.date.available | 2018-06-19T15:40:32Z | - |
dc.date.issued | 2014 | - |
dc.identifier.citation | Nature Methods, 2014, v. 11, n. 9, p. 935-937 | - |
dc.identifier.issn | 1548-7091 | - |
dc.identifier.uri | http://hdl.handle.net/10722/254437 | - |
dc.description.abstract | We 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.language | eng | - |
dc.relation.ispartof | Nature Methods | - |
dc.title | Phen-gen: Combining phenotype and genotype to analyze rare disorders | - |
dc.type | Article | - |
dc.description.nature | link_to_subscribed_fulltext | - |
dc.identifier.doi | 10.1038/nmeth.3046 | - |
dc.identifier.pmid | 25086502 | - |
dc.identifier.scopus | eid_2-s2.0-84921633944 | - |
dc.identifier.volume | 11 | - |
dc.identifier.issue | 9 | - |
dc.identifier.spage | 935 | - |
dc.identifier.epage | 937 | - |
dc.identifier.eissn | 1548-7105 | - |
dc.identifier.isi | WOS:000341409700022 | - |
dc.identifier.issnl | 1548-7091 | - |