We were excited by these studies as @SofieVincents earlier had studied a subset of MSH2 variants and showed that many disease variants were unstable and degraded in cells. We also showed how we could capture these using stability and sequence analyses. 5/n
Incidentally, our work in this area begun w this gene (https://t.co/Y3APgccRKS) and where we (@SofieVincents @_amelie_rocks et al) found many disease variants are unstable (https://t.co/SwrM6ogKAY). Nice to see how some but not all vars can be explained by
And about how he helped us to use likelihood models for amino acid sequences to predict the pathogenicity of mutations in Lynch syndrome https://t.co/Rs55CADZoX
RT @uranus_2: リンチ症候群ってあるんだな。Predicting the impact of Lynch syndrome-causing missense mutations from structural calculations https://t.co/Ku…
RT @DrKhouryCDC: Can modeling help to predict health impact of Lynch syndrome genetic mutations? Via @PLOSGenetics https://t.co/kgeoUYrU5e…
RT @DrKhouryCDC: Can modeling help to predict health impact of Lynch syndrome genetic mutations? Via @PLOSGenetics https://t.co/kgeoUYrU5e…
Short answer--yes. If interested in longer answer PubMed Williams MS AND Gudgeon JM PMIDs 21851136 23942916 Free articles!! https://t.co/eBCKamsKxy
Can modeling help to predict health impact of Lynch syndrome genetic mutations? Via @PLOSGenetics https://t.co/kgeoUYrU5e https://t.co/qo6SVErLSr
リンチ症候群ってあるんだな。Predicting the impact of Lynch syndrome-causing missense mutations from structural calculations https://t.co/KuDlJa1beL