Novel mutation identification and copy number variant detection via exome sequencing in congenital muscular dystrophy

ConclusionsOur findings support the expectation that a portion of MDC1A cases may be caused by at least one CNV allele and show how these changes can be effectively identified by additional analysis of existing exome data.

Source: Molecular Genetics & Genomic Medicine - September 15, 2020 Category: Genetics & Stem Cells Authors: Edmund S. Cauley, Alan Pittman, Swati Mummidivarpu, Ehsan G. Karimiani, Samantha Martinez, Isabella Moroni, Reza Boostani, Daniele Podini, Marina Mora, Yalda Jamshidi, Eric P. Hoffman, M. Chiara Manzini Tags: ORIGINAL ARTICLE Source Type: research