Opened 9 months ago

Last modified 7 months ago

#1575 closed task

Impute genotypes from OncoArray data — at Initial Version

Reported by: Nicklas Nordborg Owned by: Nicklas Nordborg
Priority: major Milestone: Reggie v4.54
Component: net.sf.basedb.reggie Keywords:
Cc:

Description

We have some samples which have been genotyped on the OncoArray platform. It should be possible to implement an analysis that impute genotypes for a lot more positions.

We have already made some tests with Shapeit5 (https://odelaneau.github.io/shapeit5/) and Impute5 (https://jmarchini.org/software/#impute-5) which seems to be working well.

Reference files can be downloaded from: https://github.com/odelaneau/shapeit4/tree/master/maps and https://ftp.1000genomes.ebi.ac.uk/vol1/ftp/data_collections/1000G_2504_high_coverage/working/20220422_3202_phased_SNV_INDEL_SV/

Once we have the imputed genotypes we can use them to calculate a Polygenic Risc Score (PRS). See other ticket to be created...

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