Simple and efficient germline copy number variant visualization method for the Ion AmpliSeq™ custom panel.

ABSTRACT:

Background

Recent advances in molecular genetic analysis using next-generation sequencing (NGS) have drastically accelerated the identification of disease-causing gene mutations. Most next-generation sequencing analyses of inherited diseases have mainly focused on single-nucleotide variants and short indels, although, recently, structure variations including copy number variations have come to be considered an important cause of many different diseases. However, only a limited number of tools are available for multiplex PCR-based target genome enrichment.

Methods

In this paper, we reported a simple and efficient copy number variation visualization method for Ion AmpliSeq™ target resequencing data. Unlike the hybridization capture-based target genome enrichment system, Ion Am

SUBMITTER: Nishio SY 

PROVIDER: S-EPMC6081219 | biostudies-literature | 2018 Apr

REPOSITORIES: biostudies-literature