Illumina, Inc.
METHODS AND SYSTEMS FOR DIAGNOSING FROM WHOLE GENOME SEQUENCING DATA

Abstract:

Disclosed herein include systems, devices, computer readable media, and methods for paralog genotyping, such as determining a copy number of survival of motor neuron 1 gene and genotyping cytochrome P450 family 2 subfamily D member 6 gene using a Gaussian mixture model comprising a plurality of Gaussians each representing a different integer copy number.