TARGETED SCREENING FOR MUTATIONS

摘要

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.

主权项

1. A method of screening a nucleic acid sample for mutations comprising:
(a) obtaining a nucleic acid sample; (b) fragmenting the nucleic acid sample; (c) contacting the fragmented nucleic acid sample with a panel of capture probes, wherein the panel of capture probes specifically capture targeted nucleic acid fragments which are identified as having or likely having a mutation; (d) isolating the targeted nucleic acid fragments captured by the panel of capture probes; (e) sequencing the isolated targeted nucleic acid fragments; and (f) analyzing the sequences of the isolated targeted nucleic acid fragments to identify mutations with prognostic and/or therapeutic significance.