Description of feature
SMNCopyNumberCaller is a bioinformatics tool used to determine the copy number of the highly homologous SMN1 and SMN2 genes from next-generation sequencing data, particularly whole-genome sequencing (WGS). It enables reliable detection of SMN1 deletions, supports spinal muscular atrophy (SMA) diagnosis, and estimates SMN2 copy number, which is clinically relevant for disease severity and treatment decisions.
The tool is already available as a nf-core module.
Description of feature
SMNCopyNumberCaller is a bioinformatics tool used to determine the copy number of the highly homologous SMN1 and SMN2 genes from next-generation sequencing data, particularly whole-genome sequencing (WGS). It enables reliable detection of SMN1 deletions, supports spinal muscular atrophy (SMA) diagnosis, and estimates SMN2 copy number, which is clinically relevant for disease severity and treatment decisions.
The tool is already available as a nf-core module.