Verily Life Sciences LLC

Mauricio Carneiro

Ryan Poplin

Mark Andrew DePristo

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.

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Mountain View, CA, United States of America

Mauricio Carneiro