My Settings :
Biology : GAIIx, SureSelect capture, paired-end 2x76 with "in house" indexing
BioInformatics : CASAVA v1.8 with ELANDv2, GenomeStudio
My problem :
One patient had a deletion (/ GCTGAG /) and an insertion (TTCATTCTGCAG) Del6ins12 in a "complicated" (See Illumina ) because there are a repetition before. At present, CASAVA v1.8 and therefore does not detect ELANDv2 (not reported!) a variation at this level .
Do you know of a program (software, algorithms) that could detect such an anomaly?
My sequence :
agcttcttaggacagcacttcctgattttgttttcaacttctaatcctttgagtgtttttcattctgcagAT/GCTGAG/TTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTgtaag
Also, is it possible to make the annotation (exon, intron, capture zones, etc.) in GenomeStudio?
Thanks,
Biology : GAIIx, SureSelect capture, paired-end 2x76 with "in house" indexing
BioInformatics : CASAVA v1.8 with ELANDv2, GenomeStudio
My problem :
One patient had a deletion (/ GCTGAG /) and an insertion (TTCATTCTGCAG) Del6ins12 in a "complicated" (See Illumina ) because there are a repetition before. At present, CASAVA v1.8 and therefore does not detect ELANDv2 (not reported!) a variation at this level .
Do you know of a program (software, algorithms) that could detect such an anomaly?
My sequence :
agcttcttaggacagcacttcctgattttgttttcaacttctaatcctttgagtgtttttcattctgcagAT/GCTGAG/TTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTgtaag
Also, is it possible to make the annotation (exon, intron, capture zones, etc.) in GenomeStudio?
Thanks,
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