Compositions and methods for detecting rare sequence variants

US10155980B2 · kind B2 · utility

Assignee

• ACCURAGEN HOLDINGS LIMITED · KY

Inventors

• Li Weng · Fremont, US
• Zhaohui Sun · Rochester, US
• Shengrong Lin · Hayward, US

Key dates

• Filing date: Nov 1, 2017
• Grant date: Dec 18, 2018
• Expiry date: Nov 1, 2037

Classification

• Technology area (CPC C): Chemistry; Metallurgy
• CPC primary: C12Q1/6858
• WIPO field: Biotechnology
• WIPO sector: Chemistry

Abstract

In some aspects, the present disclosure provides methods for identifying sequence variants in a nucleic acid sample. In some embodiments, a method comprises identifying sequence differences between sequencing reads and a reference sequence, and calling a sequence difference that occurs in at least two different circular polynucleotides, such as two circular polynucleotides having different junctions, or two different sheared polynucleotides as the sequence variant. In some aspects, the present disclosure provides compositions and systems useful in the described methods.