This is a test version of Biostars. For the public version, visit https://www.biostars.org.
Tools for rare variant burden analysis

Hello,

I would like to be able to see if within my patient cohort there are genes that are enriched in potentially pathogenic variants compared to what is in gnomad. unfortunately the only tools I managed to find use the old version of the reference genome (hg19) while all my data was generated on grch38, so I would like to know if anyone knows a tool that works with grch38 . As a last resort I will do a liftover of my vcf to hg19 but I don't know how reliable it is and the number of variations I risk losing.

Thanks you in advance.

variant-burden

0 answers

No answers yet.

Log in to answer this question.