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US 12,499,974 B2Granted
Quality detection of variant calling using a machine learning classifier
AssigneeIllumina, Inc.
InventorsHong Gao, Tobias Hamp, Joshua Goodwin Jon Mcmaster-Schraiber, Laksshman Sundaram, Kai-How Farh
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Abstract
The technology disclosed relates to variant calling of sequenced reads of a sample of a target species against a reference genome of a pseudo-target species. Low-quality variants are identified as false positive variants that are present in the second set of variants but absent from the first set of variants.
Claims25
A system, comprising:
- a variant quality classifier configured to process a plurality of features of a target variant, and generate a quality indication for the target variant,
- wherein the variant quality classifier is trained on a set of high-quality variants and a set of low-quality variants,
- wherein high-quality variants in the set of high-quality variants are identified as true positive variants that are common between a first set of variants and a second set of variants,
- wherein low-quality variants in the set of low-quality variants are identified as false positive variants that are present in the second set of variants but absent from the first set of variants,
- wherein the first set of variants is detected by variant calling sequenced reads of a sample of a target species against a reference genome of a non-target species, and
- wherein the second set of variants is detected by variant calling the sequenced reads of the sample of the target species against a reference genome of a pseudo-target species.
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