Patent · US Active

Methods for determining carrier status

US10851414B2 · kind B2 · utility

1Cited by

153References

17Claims

0Family size

Assignee

Good Start Genetics, Inc. · US

Inventors

Eric D. Boyden · Cambridge, US
Gregory Porreca · Cambridge, US
Mark Umbarger · Brookline, US

Key dates

Filing date	Oct 18, 2013
Grant date	Dec 1, 2020
Priority date	—
Expiry date	Mar 2, 2034

Classification

Technology area (CPC C)Chemistry; Metallurgy
CPC primaryC12Q2600/166
WIPO fieldBiotechnology
WIPO sectorChemistry

Abstract

The invention generally relates to methods for determining carrier status with respect to a condition or disease. In certain embodiments, the method involves exposing a sample to a plurality of molecular inversion probes capable of capturing DNA from at least one genomic region suspected of having an altered copy number and at least one internal control DNA known or suspected to have a stable copy number, capturing and sequencing DNA that binds to the molecular inversion probes, and determining a copy number state of the at least one genomic region based on the sequence results.

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