Ontology highlight
ABSTRACT:
SUBMITTER: Chen X
PROVIDER: S-EPMC7200598 | biostudies-literature | 2020 May
REPOSITORIES: biostudies-literature
Genetics in medicine : official journal of the American College of Medical Genetics 20200218 5
<h4>Purpose</h4>Spinal muscular atrophy (SMA), caused by loss of the SMN1 gene, is a leading cause of early childhood death. Due to the near identical sequences of SMN1 and SMN2, analysis of this region is challenging. Population-wide SMA screening to quantify the SMN1 copy number (CN) is recommended by the American College of Medical Genetics and Genomics.<h4>Methods</h4>We developed a method that accurately identifies the CN of SMN1 and SMN2 using genome sequencing (GS) data by analyzing read ...[more]