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ICO Amplicon NGS Data Analysis: A Web Tool for Variant Detection in Common High‐Risk Hereditary Cancer Genes Analyzed by Amplicon GS Junior Next‐Generation Sequencing
Author(s) -
LopezDoriga Adriana,
Feliubadaló Lídia,
Menéndez Mireia,
LopezDoriga Sergio,
MorónDuran Francisco D.,
del Valle Jesús,
Tornero Eva,
Montes Eva,
Cuesta Raquel,
Campos Olga,
Gómez Carolina,
Pineda Marta,
González Sara,
Moreno Victor,
Capellá Gabriel,
Lázaro Conxi
Publication year - 2014
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.22484
Subject(s) - amplicon , biology , computational biology , dna sequencing , amplicon sequencing , pipeline (software) , computer science , genetics , gene , bioinformatics , polymerase chain reaction , operating system , 16s ribosomal rna
Next‐generation sequencing ( NGS ) has revolutionized genomic research and is set to have a major impact on genetic diagnostics thanks to the advent of benchtop sequencers and flexible kits for targeted libraries. Among the main hurdles in NGS are the difficulty of performing bioinformatic analysis of the huge volume of data generated and the high number of false positive calls that could be obtained, depending on the NGS technology and the analysis pipeline. Here, we present the development of a free and user‐friendly Web data analysis tool that detects and filters sequence variants, provides coverage information, and allows the user to customize some basic parameters. The tool has been developed to provide accurate genetic analysis of targeted sequencing of common high‐risk hereditary cancer genes using amplicon libraries run in a GS J unior S ystem. The Web resource is linked to our own mutation database, to assist in the clinical classification of identified variants. We believe that this tool will greatly facilitate the use of the NGS approach in routine laboratories.