Compositions and methods for detecting rare sequence variants

US10767222B2 · kind B2 · utility

Assignee

• ACCURAGEN HOLDINGS LIMITED · KY

Inventors

• Shengrong Lin · Hayward, US
• Zhaohui Sun · Rochester, US
• Grace Zhao · Los Angeles, US
• Paul Ling-Fung TANG · San Francisco, US

Key dates

• Filing date: Dec 11, 2014
• Grant date: Sep 8, 2020
• Expiry date: Feb 7, 2036

Classification

• Technology area (CPC C): Chemistry; Metallurgy
• CPC primary: C12Q1/6869
• 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, as the sequence variant. In some aspects, the present disclosure provides compositions and systems useful in the described methods.