Guardant Health, Inc.
METHODS AND SYSTEMS FOR DETECTING INSERTIONS AND DELETIONS

Abstract:

Methods and systems for improving callings of insertions and/or deletions by identifying genetic sequence reads having identical molecular barcodes and sequences among sequence reads from a nucleic acid sequencer, grouping the genetic reads into a family, and processing families comprising split reads to detect the insertion and/ or deletion in a sample of polynucleotide molecules.