Using WGS/WES or target sequencing tech., we find lots of SNVs from a family samples.
However, for a genetic disease, we are not seeking the recurrent SNVs compared to those somatic ones in cancer.
My question is among those thousands SNVs, which SNV could be determined as potential risk markers. Or how can we link these SNV to phenotype?
If anyone here can provide hits, it will be of great help.