Application of whole exome sequencing in detecting copy number variants in patients with developmental delay and/or multiple congenital malformations

Overcoming the challenges for the unambiguous detection of copy number variations is essential to broaden our understanding of the role of genomic variants in the clinical phenotype, in that sense, with the improvement of software and databases the whole exome sequencing can quickly become an excellent strategy in the routine diagnosis of patients with developmental delay and/or multiple congenital malformations. However, even after a detailed analysis of pathogenic single nucleotide variants and indels in known disease genes, using whole exome sequencing, some patients with suspected syndromic conditions are left without a conclusive diagnosis.

Source: Journal of Molecular Diagnostics - May 31, 2020 Category: Pathology Authors: Évelin A. Zanardo, Fabíola P. Monteiro, Samar N. Chehimi, Yanca G. Oliveira, Alexandre T. Dias, Larissa A. Costa, Luiza L. Ramos, Gil M. Novo-Filho, Marília M. Montenegro, Amom M. Nascimento, João P. Kitajima, Fernando Kok, Leslie D. Kulikowski Tags: Regular Article Source Type: research