'COV'COP' allows to detect CNVs responsible for inherited diseases among amplicons sequencing data

被引：15

作者：

Derouault, P. ^{[1
]}

Parfait, B. ^{[2
]}

Moulinas, R. ^{[3
]}

Barrot, C. -C. ^{[4
]}

Sturtz, F. ^{[4
,5
]}

Merillou, S. ^{[6
]}

Lia, A. -S. ^{[4
,5
]}

机构：

[1] Univ Limoges, GEIST, F-87000 Limoges, France

[2] Hop Cochin, Genet & Biol Mol, F-75014 Paris, France

[3] CHU Limoges, GENOLIM, F-87000 Limoges, France

[4] CHU Limoges, Biochim & Genet Mol, F-87000 Limoges, France

[5] Univ Limoges, GEIST EA6309, F-87000 Limoges, France

[6] Univ Limoges, XLIM UMR7252, F-87000 Limoges, France

来源：

BIOINFORMATICS | 2017年 / 33卷 / 10期

关键词：

D O I：

10.1093/bioinformatics/btx017

中图分类号：

Q5 [生物化学];

学科分类号：

071010 ; 081704 ;

摘要：

A Summary: In order to help molecular geneticists to rapidly identify CNVs responsible for inherited diseases among amplicons sequencing data generated by NGS, we designed a user-friendly tool 'Cov'Cop'. Using the run's coverage file provided by the sequencer, Cov'Cop simultaneously analyzes all the patients of the run using a two-stage algorithm containing correction and normalization levels and provides an easily understandable output, showing with various colors, potentially deleted and duplicated amplicons.

引用

页码：1586 / 1588

页数：3

共 2 条

[1] Summarizing and correcting the GC content bias in high-throughput sequencing [J].