作者
Job van Riet, Niels MG Krol, Peggy N Atmodimedjo, Erwin Brosens, Wilfred FJ van Ijcken, Maurice PHM Jansen, John WM Martens, Leendert H Looijenga, Guido Jenster, Hendrikus J Dubbink, Winand NM Dinjens, Harmen JG van de Werken
发表日期
2018/3/1
期刊
The Journal of Molecular Diagnostics
卷号
20
期号
2
页码范围
166-176
出版商
Elsevier
简介
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. In addition, SNPitty is capable of generating predefined reports that summarize and highlight disease-specific targets of interest. SNPitty was validated for diagnostic interpretation of …
引用总数
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