Patent · US Active

Detecting repeat expansions with short read sequencing data

US10699801B2 · kind B2 · utility

1Cited by

0References

24Claims

0Family size

Assignee

Illumina Cambridge Limited · GB

Inventors

Michael A. Eberle · San Diego, US
Richard Shaw · Sterling, US

Key dates

Filing date	Sep 11, 2015
Grant date	Jun 30, 2020
Priority date	—
Expiry date	Feb 20, 2036

Classification

Technology area (CPC C)Chemistry; Metallurgy
CPC primaryC12Q2600/156
WIPO fieldComputer technology
WIPO sectorElectrical engineering

Abstract

The disclosed embodiments concern methods, apparatus, systems and computer program products for determining the presence or absence of repeat expansions of interest, including repeat expansions of repeat sequences that are medically significant. Some embodiments provide methods for identifying and calling medically relevant repeat expansions using anchored reads. An anchored read is a paired end read that is unaligned to a repeat sequence under consideration, but it is paired with an anchor read that is aligned to or near the repeat sequence. Some embodiments use both anchor and anchored reads to determine the presence or absence of the repeat expansions. System, apparatus, and computer program products are also provided for determining repeat expansion implementing the methods disclosed.

Source: USPTO / EPO open patent data. Objective bibliographic and citation counts.