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Article

Application of Whole-Exome Sequencing in Detecting Copy Number Variants in Patients with Developmental Delay and/or Multiple Congenital Malformations.

The Journal of molecular diagnostics : JMD - 1 Aug 2020

Zanardo Évelin A, Monteiro Fabíola P, Chehimi Samar N, Oliveira Yanca G, Dias Alexandre T, Costa Larissa A, Ramos Luiza L, Novo-Filho Gil M, Montenegro Marília M, Nascimento Amom M, Kitajima João P, Kok Fernando, Kulikowski Leslie D

Abstract excerpt

Overcoming 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. With the improvement of software and databases, whole-exome sequencing quickly can become an excellent strategy in the routine diagnosis of patients with a developmental delay and/or multiple congenital malformations. However, even after...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32497716
DOI: 10.1016/j.jmoldx.2020.05.007

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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