Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk
Sign Up to like & getrecommendations! Published in 2020 at "American Journal of Human Genetics"
DOI: 10.1016/j.ajhg.2020.12.003
Abstract: Summary The lack of functional evidence for the majority of missense variants limits their clinical interpretability and poses a key barrier to the broad utility of carrier screening. In Lynch syndrome (LS), one of the… read more here.
Keywords: missense variants; massively parallel; msh2; parallel functional ... See more keywords
CLIP and Massively Parallel Functional Analysis of CELF6 Reveal a Role in Destabilizing Synaptic Gene mRNAs through Interaction with 3′ UTR Elements
Sign Up to like & getrecommendations! Published in 2020 at "Cell reports"
DOI: 10.1016/j.celrep.2020.108531
Abstract: SUMMARY CELF6 is a CELF-RNA-binding protein, and thus part of a protein family with roles in human disease; however, its mRNA targets in the brain are largely unknown. Using cross-linking immunoprecipitation and sequencing (CLIP-seq), we… read more here.
Keywords: analysis celf6; massively parallel; parallel functional; clip massively ... See more keywords