Improved Efficiency and Reliability of NGS Amplicon Sequencing Data Analysis for Genetic Diagnostic Procedures Using AGSA Software

Screening for BRCA mutations in women with familial risk of breast or ovarian cancer is an ideal situation for high-throughput sequencing, providing large amounts of low cost data. However, 454, Roche, and Ion Torrent, Thermo Fisher, technologies produce homopolymer-associated indel errors, complica...

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Veröffentlicht in:Biomed Res Int
Hauptverfasser: Poulet, Axel, Privat, Maud, Ponelle, Flora, Viala, Sandrine, Decousus, Stephanie, Perin, Axel, Lafarge, Laurence, Ollier, Marie, El Saghir, Nagi S., Uhrhammer, Nancy, Bignon, Yves-Jean, Bidet, Yannick
Format: Artigo
Sprache:Inglês
Veröffentlicht: Hindawi Publishing Corporation 2016
Schlagworte:
Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5021467/
https://ncbi.nlm.nih.gov/pubmed/27656653
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2016/5623089
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