🎉 Just published in Nature Communications: why carriers of the same pathogenic variant can have wildly different outcomes.
We untangle three genetic factors—variant impact (ESM1b), polygenic risk scores, and genetic interactions (epistasis).
rdcu.be
Investigating the sources of variable impact of pathogenic variants in monogenic metabolic conditions
Nature Communications - Here the authors investigate the underlying genetic mechanisms for pathogenic variant carrier phenotype heterogeneity using exomes and clinical phenotypes from the UK and...
