bio-ontology-research-group/phenomenet-vp: A phenotype-based tool for variant prioritization in WES and WGS data

Type
Software
Authors
Boudellioua, Imene
Kulmanov, Maxat cc
Schofield, Paul N.
Gkoutos, Georgios V.
Hoehndorf, Robert cc
KAUST Department
Bio-Ontology Research Group (BORG)
Computational Bioscience Research Center (CBRC)
Computer Science Program
Computer, Electrical and Mathematical Science and Engineering (CEMSE) Division
Date
2016-03-14
Permanent link to this record
http://hdl.handle.net/10754/667044

Metadata
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Abstract
A phenotype-based tool for variant prioritization in WES and WGS data
Publisher
Github
Additional Links
https://github.com/bio-ontology-research-group/phenomenet-vp
Relations
Is Supplement To:
  • [Article]
    Boudellioua I, Kulmanov M, Schofield PN, Gkoutos GV, Hoehndorf R (2019) DeepPVP: phenotype-based prioritization of causative variants using deep learning. BMC Bioinformatics 20. Available: http://dx.doi.org/10.1186/s12859-019-2633-8.. DOI: 10.1186/s12859-019-2633-8 Handle: 10754/627821
Collections
Bio-Ontology Research Group (BORG); Computer Science Program; Computational Bioscience Research Center (CBRC); Software; Computer, Electrical and Mathematical Science and Engineering (CEMSE) Division