Ontology highlight
ABSTRACT:
SUBMITTER: Moreno-Cabrera JM
PROVIDER: S-EPMC7784926 | biostudies-literature | 2020 Dec
REPOSITORIES: biostudies-literature
Moreno-Cabrera José Marcos JM Del Valle Jesús J Castellanos Elisabeth E Feliubadaló Lidia L Pineda Marta M Brunet Joan J Serra Eduard E Capellà Gabriel G Lázaro Conxi C Gel Bernat B
European journal of human genetics : EJHG 20200619 12
Although germline copy-number variants (CNVs) are the genetic cause of multiple hereditary diseases, detecting them from targeted next-generation sequencing data (NGS) remains a challenge. Existing tools perform well for large CNVs but struggle with single and multi-exon alterations. The aim of this work is to evaluate CNV calling tools working on gene panel NGS data and their suitability as a screening step before orthogonal confirmation in genetic diagnostics strategies. Five tools (DECoN, CoN ...[more]