Application of Whole-Exome Sequencing in Detecting Copy Number Variants in Patients with Developmental Delay and/or Multiple Congenital Malformations
Évelin Aline Zanardo, Fabíola Paoli Monteiro, Samar Nasser Chehimi, Yanca Gasparini Oliveira, Alexandre Torchio Dias, Larissa A. Costa, Luiza Ramos, Gil Monteiro Novo‐Filho, Marília M. Montenegro, A. Nascimento, João Paulo Kitajima, Fernando Kok, Leslie Domenici Kulikowski
Topics & Concepts
Exome sequencingCopy-number variationBiologyGeneticsExomeGene duplicationPhenotypeDNA sequencingComputational biologyComparative genomic hybridizationIndelGeneGenomeSingle-nucleotide polymorphismGenotypeGenomic variations and chromosomal abnormalitiesGenomics and Rare DiseasesCongenital heart defects research