Patent ID: 11929146
Assignee: SEQUENOM, INC.
Field: Computer technology (Electrical engineering)
Classification: CPC G | IPC G

Claim 28:
29. A system comprising a memory and one or more microprocessors, which memory comprises instructions and which one or more microprocessors are configured to perform, according to the instructions, a processor for determining the a presence or absence of one or more chromosome alterations in sample nucleic acid in a test sample, which process comprises:
(a) generating a plurality of sequence read subsequences for each sequence read of sequence reads obtained from sequencing the test sample and a plurality of sequence read subsequences for each sequence read obtained from sequencing a reference sample,
(b) aligning each of the sequence read subsequences to a reference genome to determine a mappability of the sequence read subsequence using a computer processor,
(c) identifying a subset of the sequence reads for which there is a change in the mappability of one or more of the subsequences of each identified sequence read for the test sample and for the reference sample;
(d) comparing (i) the number of each of the sequence reads in the subset identified in (d) from the test sample, to (ii) the number of each of the sequence reads in the subset identified in (d) from the reference sample, thereby generating a comparison; and
(e) determining the presence or absence of one or more chromosome alterations for the sample according to the comparison in (d).