Patent ID: 11972841
Assignee: PERSONAL GENOME DIAGNOSTICS INC.
Field: Computer technology (Electrical engineering)
Classification: CPC G | IPC G

Claim 9:
10. The method of claim 1, wherein classifying the candidate variant comprises detecting at least one boundary of a structural alteration by a set of steps selected from (a) and (b):
(a) sequencing a fragment of the cfDNA by paired-end sequencing to obtain a pair of paired-end reads, and mapping the pair of paired end reads to a reference, wherein when the pair of paired-end reads exhibit a discordant mapping to the reference, the fragment includes the boundary; and
(b) sequencing the cfDNA to determine a plurality of sequence tags, mapping the tags to the reference, and determining tag densities of mapped tags along portions of the reference, wherein when a portion of the reference exhibits an anomalous tag density a large indel is detected in a corresponding portion of the cfDNA from the sample, wherein an end of the indel corresponds to the boundary of the structural alteration.