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US 2019/0198134 A1Published application
Systems and methods for snp characterization and identifying off target variants
AssigneeAffymetrix, Inc.
InventorsHong Gao, Ali Pirani, Teresa Webster, Mei-Mei Shen
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Abstract
Methods for processing data using information gained from examining biological materials identifies and characterized probes for Single Nucleotide Polymorphisms and identifies Off Target Variants.
Claims21
1-15. (canceled)
A method of genotyping single nucleotide polymorphisms (SNPs) by identifying off-target variants (OTVs) using a computer system comprising:
- accessing genotype clustering data from a number of samples from a probeset location, the genotype clustering data comprising genotype cluster calls of samples, cluster centers, and variance;
- accessing sample data that indicates contrast and intensity detected at a probeset location across a number of samples;
- searching for optimal clustering of said sample data in both contrast and intensity dimensions, allowing for an OTV genotype cluster;
- iteratively updating sample assignments to clusters and cluster centers until convergence;
- and
- outputting genotyping cluster results for said samples.
3 more elements
(canceled)
35-56. (canceled)
Dependencies are inferred from the claim text.