Detecting genetic copy number variation

US10640823B2 · kind B2 · utility

Assignee

• Quest Diagnostics Investments LLC · US

Inventors

• Corey Brastaad · Southampton, US
• Christopher D. Elzinga · San Juan Capistrano, US
• Mingsheng Zhang · Belmont, US
• Matthew C. Evans · Shrewsbury, US

Key dates

• Filing date: Jul 8, 2015
• Grant date: May 5, 2020
• Expiry date: Mar 3, 2038

Classification

• Technology area (CPC C): Chemistry; Metallurgy
• CPC primary: C12Q1/6869
• WIPO field: Biotechnology
• WIPO sector: Chemistry

Abstract

Embodiments of the invention include systems, apparatus, and methods for detecting copy number variation (CNV) in the genomes of one or more patients. Samples of DNA may be taken from several patients, and then sections of the patients' DNA may be sequenced, e.g., through a process that may include, for each patient, one or more of: purifying, concentrating, fragmenting, labeling, filtering, and amplifying that patient's DNA. Fragments from several patients may be pooled, and the fragments in the pool may be sequenced.The sequencing data is then subjected to analysis, which includes several normalization steps. The normalized data are then examined to identify CNV, which is reported.