The patent badge is an abbreviated version of the USPTO patent document. The patent badge does contain a link to the full patent document.
The patent badge is an abbreviated version of the USPTO patent document. The patent badge covers the following: Patent number, Date patent was issued, Date patent was filed, Title of the patent, Applicant, Inventor, Assignee, Attorney firm, Primary examiner, Assistant examiner, CPCs, and Abstract. The patent badge does contain a link to the full patent document (in Adobe Acrobat format, aka pdf). To download or print any patent click here.
Patent No.:
Date of Patent:
Oct. 28, 2025
Filed:
Oct. 22, 2020
Foundation Medicine, Inc., Cambridge, MA (US);
James Xin Sun, Newton, MA (US);
Roman Yelensky, Newton, MA (US);
Foundation Medicine, Inc., Boston, MA (US);
Abstract
Methods and systems for analyzing genetic variants are disclosed. The methods and systems can be used to classify a variant in a tumor sample as germline, somatic, subclonal, or ambiguous. The variant can be classified by fitting a genome-wide copy number model to a sequence coverage input and a SNP allele frequency input. The fitted model can be used to determine a tumor purity, and a total copy number and a minor allele copy number for each of a plurality of genomic segments. Using the tumor purity, the total copy number and the minor allele copy number for the genomic segment comprising the variant, and the variant allele frequency for the variant in the tumor sample, the variant can be classified as germline, somatic, subclonal or ambiguous.