Patent ID: 9218450
Filing Date: 2015-12-22
Classification: G16B

Abstract:
1. A method of detecting variants in a target region in a sample genome of an organism, the method comprising: receiving a plurality of sequence reads, the sequence reads obtained from sequencing genomic segments in a sample obtained from the organism, wherein the sequencing includes targeting genomic segments from the target region; identifying one or more alternate regions in a reference genome that have a respective first number of variations from the target region in the reference genome, each respective first number being greater than one and less than a first threshold number; performing, with a computer system, an alignment of the plurality of sequence reads to the target region in the reference genome to identify a set of sequence reads that align to the target region in the reference genome with less than a second threshold number of variations; removing from the set a sequence read that is aligned to one of the one or more alternate regions in the reference genome with a second number of variations that is less than a third threshold number; and analyzing the remaining sequence reads of the set to determine variants in the target region in the sample genome.