sábado, 26 de mayo de 2018

VAReporter: variant reporter for cancer research of massive parallel sequencing. - PubMed - NCBI

VAReporter: variant reporter for cancer research of massive parallel sequencing. - PubMed - NCBI



 2018 May 9;19(Suppl 2):86. doi: 10.1186/s12864-018-4468-5.

VAReporter: variant reporter for cancer research of massive parallel sequencing.

Huang PJ1,2,3Lee CC4Chiu LY3Huang KY5Yeh YM3Yang CY3Chiu CH2Tang P6,7,8.

Abstract

BACKGROUND:

High throughput sequencing technologies have been an increasingly critical aspect of precision medicine owing to a better identification of disease targets, which contributes to improved health care cost and clinical outcomes. In particular, disease-oriented targeted enrichment sequencing is becoming a widely-accepted application for diagnostic purposes, which can interrogate known diagnostic variants as well as identify novel biomarkers from panels of entire human coding exome or disease-associated genes.

RESULTS:

We introduce a workflow named VAReporter to facilitate the management of variant assessment in disease-targeted sequencing, the identification of pathogenic variants, the interpretation of biological effects and the prioritization of clinically actionable targets. State-of-art algorithms that account for mutation phenotypes are used to rank the importance of mutated genes through visual analytic strategies. We established an extensive annotation source by integrating a wide variety of biomedical databases and followed the American College of Medical Genetics and Genomics (ACMG) guidelines for interpretation and reporting of sequence variations.

CONCLUSIONS:

In summary, VAReporter is the first web server designed to provide a "one-stop" resource for individual's diagnosis and large-scale cohort studies, and is freely available at http://rnd.cgu.edu.tw/vareporter .

KEYWORDS:

Exomes; ICGC; NGS; SNV annotation; TCGA

PMID:
 
29764369
 
PMCID:
 
PMC5954270
 
DOI:
 
10.1186/s12864-018-4468-5

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