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:
Jan. 12, 2021
Filed:
Aug. 02, 2017
Verily Life Sciences Llc, Mountain View, CA (US);
Mauricio Carneiro, Mountain View, CA (US);
Mark DePristo, Palo Alto, CA (US);
Ryan Poplin, Sunnyvale, CA (US);
Verily Life Sciences LLC, South San Francisco, CA (US);
Abstract
The present invention relates to systems and methods for determining the identity of alleles from genomic sequencing data via pseudoalignments. Particularly, aspects of the present invention are directed to a computer implemented method that includes obtaining a paired-end fragment from a genomic sample, determining a first nucleotide substring from a first end of the paired-end fragment matches a nucleotide substring within an index of nucleotide substrings and alleles, determining a second nucleotide substring from a second end of the paired-end fragment matches another nucleotide substring within the index, determining an intersection between the nucleotide substring and the another nucleotide substring exists, when an allele that contains the nucleotide substring is the same allele that contains the another nucleotide substring; and determining a probability that the paired end fragment is an observation of the allele based on the existence of the intersection.