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CovCopCan: An efficient tool to detect Copy Number Variation from amplicon sequencing data in inherited diseases and cancer.

ABSTRACT: Molecular diagnosis is an essential step of patient care. An increasing number of Copy Number Variations (CNVs) have been identified that are involved in inherited and somatic diseases. However, there are few existing tools to identify them among amplicon sequencing data generated by Next Generation Sequencing (NGS). We present here a new tool, CovCopCan, that allows the rapid and easy detection of CNVs in inherited diseases, as well as somatic data of patients with cancer, even with a low ratio of cancer cells to healthy cells. This tool could be very useful for molecular geneticists to rapidly identify CNVs in an interactive and user-friendly way.

SUBMITTER: Derouault P

PROVIDER: S-EPMC7041855 | biostudies-literature | 2020 Feb

REPOSITORIES: biostudies-literature

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CovCopCan: An efficient tool to detect Copy Number Variation from amplicon sequencing data in inherited diseases and cancer.

Derouault Paco P Chauzeix Jasmine J Rizzo David D Miressi Federica F Magdelaine Corinne C Bourthoumieu Sylvie S Durand Karine K Dzugan Hélène H Feuillard Jean J Sturtz Franck F Mérillou Stéphane S Lia Anne-Sophie AS

PLoS computational biology 20200212 2

Molecular diagnosis is an essential step of patient care. An increasing number of Copy Number Variations (CNVs) have been identified that are involved in inherited and somatic diseases. However, there are few existing tools to identify them among amplicon sequencing data generated by Next Generation Sequencing (NGS). We present here a new tool, CovCopCan, that allows the rapid and easy detection of CNVs in inherited diseases, as well as somatic data of patients with cancer, even with a low ratio ...[more]

PMID: 32049956

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