VarSight: prioritizing clinically reported variants with binary classification algorithms

James M Holt; Brandon Wilk; Camille L Birch; Donna M Brown; Manavalan Gajapathy; Alexander C Moss; Nadiya Sosonkina; Melissa A Wilk; Julie A Anderson; Jeremy M Harris; Jacob M Kelly; Fariba Shaterferdosian; Angelina E Uno-Antonison; Arthur Weborg; Elizabeth A Worthey

doi:10.1186/s12859-019-3026-8

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VarSight: prioritizing clinically reported variants with binary classification algorithms

Journal article

Open access

Peer reviewed

VarSight: prioritizing clinically reported variants with binary classification algorithms

James M Holt, Brandon Wilk, Camille L Birch, Donna M Brown, Manavalan Gajapathy, Alexander C Moss, Nadiya Sosonkina, Melissa A Wilk, Julie A Anderson, Jeremy M Harris, …

BMC bioinformatics, Vol.20(1), pp.496-496

2019-10-15

DOI: https://doi.org/10.1186/s12859-019-3026-8

PMCID: PMC6792253

PMID: 31615419

Abstract

Variant prioritization

Clinical genome sequencing

Binary classification

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https://doi.org/10.1186/s12859-019-3026-8View

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Citation topics: 1 Clinical & Life Sciences; 1.54 Molecular & Cell Biology - Genetics; 1.54.79 Gene Expression Data
Web Of Science research areas: Biochemical Research Methods; Biotechnology & Applied Microbiology; Mathematical & Computational Biology
ESI research areas: Computer Science

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Details

Title: VarSight: prioritizing clinically reported variants with binary classification algorithms
Creators: James M Holt - 601 Genome Way, Huntsville, 35806 USA
Brandon Wilk - 601 Genome Way, Huntsville, 35806 USA
Camille L Birch - 601 Genome Way, Huntsville, 35806 USA
Donna M Brown - 601 Genome Way, Huntsville, 35806 USA
Manavalan Gajapathy - 601 Genome Way, Huntsville, 35806 USA
Alexander C Moss - 601 Genome Way, Huntsville, 35806 USA
Nadiya Sosonkina - 601 Genome Way, Huntsville, 35806 USA
Melissa A Wilk - 601 Genome Way, Huntsville, 35806 USA
Julie A Anderson - 601 Genome Way, Huntsville, 35806 USA
Jeremy M Harris - 601 Genome Way, Huntsville, 35806 USA
Jacob M Kelly - 601 Genome Way, Huntsville, 35806 USA
Fariba Shaterferdosian - 601 Genome Way, Huntsville, 35806 USA
Angelina E Uno-Antonison - 601 Genome Way, Huntsville, 35806 USA
Arthur Weborg - 601 Genome Way, Huntsville, 35806 USA
Elizabeth A Worthey - 601 Genome Way, Huntsville, 35806 USA
Publication Details: BMC bioinformatics, Vol.20(1), pp.496-496
Publisher: BioMed Central; London
Grant note: U01HG007674 / ; U01HG007690 / ; U01HG007709 / ; U01HG007943 / ; U01HG007530 / ; U01HG007708 / ; U01HG007703 / ; U01HG007672 / ;
Language: English
Resource Type: Journal article
PMID: 31615419
PMCID: PMC6792253
Record Identifier: 991031578562202976