Description

tool to call the copy number of full-length SMN1, full-length SMN2, as well as SMN2Δ7–8 (SMN2 with a deletion of Exon7-8) from a whole-genome sequencing (WGS) BAM file.

Input

Name
Description
Pattern

0 ()

1 ()

2 ()

Output

Name
Description
Pattern

smncopynumber ()

run_metrics ()

versions ()

Tools

smncopynumbercaller Documentation

call copy number of SMN1, SMN2, SMN2Δ7–8 from a bam file

doi: 10.1038/s41436-020-0754-0License: Apache License Version 2.0
Authors