Invention Grant
- Patent Title: Rapid aneuploidy detection
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Application No.: US14388314Application Date: 2013-03-22
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Publication No.: US10053729B2Publication Date: 2018-08-21
- Inventor: Bert Vogelstein , Kenneth W. Kinzler , Nickolas Papadopoulos , Isaac G. Kinde
- Applicant: THE JOHNS HOPKINS UNIVERSITY
- Applicant Address: US MD Baltimore
- Assignee: The Johns Hopkins University
- Current Assignee: The Johns Hopkins University
- Current Assignee Address: US MD Baltimore
- Agency: Fish & Richardson P.C.
- International Application: PCT/US2013/033451 WO 20130322
- International Announcement: WO2013/148496 WO 20131003
- Main IPC: C12Q1/6869
- IPC: C12Q1/6869 ; C12Q1/6827 ; C12Q1/6883 ; C12Q1/6811

Abstract:
The present disclosure relates to methods for testing a human for aneuploidy. In some aspects, a plurality of chromosomal sequences in a DNA sample from a human are amplified with a single pair of primers complementary to said chromosomal sequences to form a plurality of amplicons, wherein the plurality of amplicons are not identical, and wherein the plurality of amplicons include sequences on a query chromosome and sequences on a plurality of reference chromosomes. In some aspects, reactions are performed to determine the nucleotide sequence of at least 3 nucleotides of the plurality of amplicons. In some aspects, amplicon nucleotide sequences are matched in silico to genomic sequences at genomic loci. In some aspects, numbers of matching amplicons at individual genomic loci are counted. In some aspects, numbers of amplicons matched to genomic loci on the query chromosome are compared to numbers of amplicons matched to genomic loci on the reference chromosomes.
Public/Granted literature
- US20150051085A1 RAPID ANEUPLOIDY DETECTION Public/Granted day:2015-02-19
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