KCCG / ClinSV

Robust detection of clinically relevant structural and copy number variation from whole genome sequencing data
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Why i get "-1" in the column "PAF1KG" #37

Open Sh1von opened 1 year ago

Sh1von commented 1 year ago

u said that "PAF1KG" is population variant in 1000 Genome, so why i get the value "-1"? And i hvae get some break ends (BND) result, PAFG and PAF1KG = 0 , but PAFV =0.044 ? u only have 500 controls? and this translocation is so natural ? I observed some BND are even 0.92? This is incredible. BTW. I suggest emphasizing in readme that GRCh37 needs bam without "chr"