Illumina, Inc.
METHODS AND SYSTEMS FOR DETERMINING PARALOGS

Abstract:

Disclosed herein are systems and methods for spinal muscular atrophy (SMA) diagnosis from whole genome sequencing data. In one embodiment, a method comprises aligning whole genome sequencing (WGS) reads of a subject's sample to a modified reference sequence such as a modified reference genome sequence. After counting the reads supporting quasi-alleles at select positions of the reference sequence, the method can adjust for coverage and determine a number of functional SMN1 gene copies. The method can determine affected or carrier status of the subject based on the copy number of functional SMN1 gene copies.