Guardant Health, Inc.
METHODS AND SYSTEMS FOR DETERMINING FUSION EVENTS

Abstract:

Methods, systems, and apparatuses for determining fusion events are described. Some types of cancer, as well as other somatic or congenital events, disrupt the duplication mechanism of the cell, and damage the underlying DNA by introducing rearrangements or indels (insertions or deletions) of variable lengths. The detection of these events is well known to be a difficult problem, especially if high specificity is required, to the point that traditional fusion callers are expected to generate thousands of false positives. The methods, systems, and apparatuses described herein have improved capability to detect fusion events with high sensitivity and specificity using de novo assembly of input sequence reads before calling fusion events.