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Publication type: Article
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Title: |
SNPitty: An Intuitive Web Application for Interactive B-Allele Frequency and Copy Number Visualization of Next-Generation Sequencing Data
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Author(s): |
Riet,Job van
(Author)
Krol,Niels M.G.
(Author)
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Source Journal Info. |
Title:The jouranal of molecular diagnostics
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Issue Number:2018/MAR V.20 N.2
Call No.:616.0756 JMD Location: References & Periodical Hall - 2nd floor
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Physical Description: |
p 166–176
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Subject Area: |
Medical sciences
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Subject Terms: |
Molecular diagnosis
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Accession Number |
170986
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Abstract
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Exploration and visualization of next-generation sequencing data are crucial for clinical diagnostics. Software allowing simultaneous visualization of multiple regions of interest coupled with dynamic heuristic filtering of genetic aberrations is, however, lacking. Therefore, the authors developed the web application SNPitty that allows interactive visualization and interrogation of variant call format files by using B-allele frequencies of single-nucleotide polymorphisms and single-nucleotide variants, coverage metrics, and copy numbers analysis results. SNPitty displays variant alleles and allelic imbalances with a focus on loss of heterozygosity and copy number variation using genome-wide heterozygous markers and somatic mutations. ...
Abstract URL:https://jmd.amjpathol.org/article/S1525-1578(17)30166-6/abstract
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