I tried to upload vcf of SV from HiFi CNV and pbsv into Franklin (by genoox)
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9 months ago
Nannapat • 0

Hi Franklin drop VCFSV result I tried to upload vcf of SV from HiFi CNV and pbsv into Franklin (by genoox). For inherited disease family case, I used 1 file of merged vcf for SNV from Deeptrio, used 1 file of merged CNV from HiFi CNV and used 1 file of merged SV from pbsv. Then, Frankin automatically separated merged vcf files to proban, father and mather as picture. The result showed error for merged vcf from pbsv that Frankin identified as somatic vcf. In fact, all merged vcf files are blood sample. Finally, the annotation result showed only SNV , but SV show no result although removed all filters. Anyone, please help to advise me. Thanks in advance.

Franklin • 451 views
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