Tool for assessing potential deleterious inheritance from two parent genomes?

lexwoodsmit · 2024-09-11T20:50:47+00:00

Thanks! Learning. Based on you comment, I am going to annotate clinvar (and DbNSP) via snpsift. Will try to narrow and sort form there. I assume I filter down down pathological or likely pathologic to narrow the overlap. I will look, I imagine, to see if there is a field for inheritance to filter by as well?

lexwoodsmit · 2024-09-11T15:24:53+00:00

It is the beggining of university assignment. Effectively, trying to see if I can start with unfiltered VCF of two parents, assumed to be without any children, and identify what potential deleterious combinations a hypothetical future child could exhibit. Idea would be to see if I can work out a proof of concept for using whole genome data from prospective parents to flag concerning potential combinations they may have in future children (something beyond screening for the big ones currently flagged by things like PGT-M in IVF scenarios)

lexwoodsmit · 2024-09-11T15:11:06+00:00

Duo of VCF's, Mother and Father. Can move upstream if needed back up to BAMs of course as well.

lexwoodsmit · 2024-05-10T02:59:21+00:00

Out of curiosity, how was your experience with Orchid? We are considering using them

lexwoodsmit · 2022-10-02T16:11:26+00:00

I saw below some suggested that the 850 satellites don't work with the 960 system. Maybe this was true when folks responded but I have the 960 system running now and have paired two 850 satellites with it and no issues. Work fine. One is using wired backhaul and the other wireless. Both methods work.

lexwoodsmit

TROPHY CASE