Suzanne V Graham

US Patent:

20160281171, Sep 29, 2016

Filed:

Nov 6, 2014

Appl. No.:

15/034840

Inventors:

- San Diego CA, US
Brad Patay - San Diego CA, US
Andrew Carson - San Diego CA, US
Suzanne Graham - San Diego CA, US

International Classification:

C12Q 1/68

Abstract:

Compositions, methods and kits for genomic screening, genetic analysis, and gene discovery. In some embodiments the disclosed methods can detect large internal tandem duplications, or novel translocations, as well as identify the genomic breakpoint of novel translocations when only one of the two fusion partners is known or targeted. This is accomplished by employing a series of carefully selected capture probes to target genome-specific and disease-specific areas of target genes that harbor disease related somatic mutations, insertions/deletions or are involved in translocations.