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US 11,761,036 B2Granted
Methods, systems and processes of identifying genetic variations
AssigneeInvitae Corporation
InventorsErik Gafni, Swaroop Aradhya, Leah Matzat, Eric Olivares, Vinayak Kulkarni, Joshua Paul
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Abstract
Provided herein are novel methods, systems and processes for generating and analyzing sequence data for the determination of the presence or absence of one or more genetic variations within a genome of a subject.
Claims20
A computer implemented system for performing a genome analysis comprising:
- a) providing single-end sequence reads that represent less than 5% of the entire genome of a subject, wherein (i) the average distance between reads is at least 4000 bp, (ii) the reads comprise sequence information for greater than 400,000 polymorphisms, and (iii) each read comprises sequence information for at least one of the polymorphisms;
- b) determining a presence or absence of heterozygosity for each of the polymorphisms according to the sequence information;
- and
- c) determining the presence or absence of a copy number variation (CNV) for a portion of the genome according to the presence or absence of heterozygosity determined in (b).
1 more element
A non-transitory computer-readable storage medium comprising an executable program stored thereon, wherein the program instructs a microprocessor to:
- a) obtain a plurality of single-end sequence reads that represent less than 5% of the entire genome of a subject, wherein (i) the average distance between reads is at least 4000 bp, (ii) the reads comprise sequence information for greater than 400,000 polymorphisms, and (iii) each read comprises sequence information for at least one of the polymorphisms;
- b) determine a presence or absence of heterozygosity for each of the polymorphisms according to the sequence information;
- and
- c) determine the presence or absence of a copy number variation (CNV) for a portion of the genome according to the presence or absence of heterozygosity determined in (b).
1 more element
Dependencies are inferred from the claim text.