US 12,077,822 B2
Methods for determining carrier status
Eric D. Boyden, Cambridge, MA (US); Gregory Porreca, Cambridge, MA (US); and Mark Umbarger, Brookline, MA (US)
Assigned to Molecular Loop Biosciences, Inc., Cambridge, MA (US)
Filed by Molecular Loop Biosciences, Inc., Cambridge, MA (US)
Filed on Nov. 25, 2020, as Appl. No. 17/104,906.
Application 17/104,906 is a continuation of application No. 14/057,673, filed on Oct. 18, 2013, granted, now 10,851,414.
Prior Publication US 2021/0277472 A1, Sep. 9, 2021
This patent is subject to a terminal disclaimer.
Int. Cl. C12Q 1/6883 (2018.01); C12Q 1/6827 (2018.01); C12Q 1/6874 (2018.01)
CPC C12Q 1/6883 (2013.01) [C12Q 1/6827 (2013.01); C12Q 1/6874 (2013.01); C12Q 2600/156 (2013.01); C12Q 2600/166 (2013.01)] 17 Claims
OG exemplary drawing
 
1. A method for determination of copy number, the method comprising the steps of:
exposing a sample to a plurality of molecular inversion probes (MIPs), wherein a first MIP hybridizes to a genomic region suspected of having an altered copy number and a second MIP hybridizes to an internal control DNA suspected of having a stable copy number;
capturing, using the MIPs, the genomic region and the internal control DNA in said sample;
sequencing said genomic region and the internal control DNA, thereby to obtain sequence reads;
operating a computer system to
provide read counts, of the sequence reads, for said genomic region and the internal control DNA;
normalize said read counts for the genomic region with respect to the internal control DNA;
compare normalized read counts for said genomic region with a standard; and
infer copy number status of said genomic region based upon said comparing step.