You are here

Methods and Systems for Detection of Somatic Structural Variants

Application No.

PCT/US2018/056342

Broad Case No.

BI-10261

List of inventors -

Giulio Genovese, Po-Ru Loh, Steven McCarroll

Abstract

Embodiments disclosed herein provide methods, systems, and computer program products that utilize long-range phase information to detect subtle chromosome imbalances in genotype data. Clonal expansions result from mutation followed by selective proliferation, and the embodiments disclosed herein may be used to somatic structural variant events (SVs) predictive or diagnostic of cancer and other diseases.

Date PUBLISHED

  • 04/25/2019

Published Patent Application

  • WO2019/079493

PDF Download