Fantastic start to #ESHG2020 with thought-provoking talks from Jonathan Weissman's Lab, Matt Loose, @dougfowler42 and Alexander Hoischen, with lots to think about for rare disease genetics. Start as you mean to go on, eh!

So thrilled to see Katherine Wood from Evolution, Infection and Genomics (EIG) UoM presenting her fantastic work on spliceosomal disorders, taking us from the genetic and molecular basis to the realm of the tissue and organism #ESHG2020. And now for an eagerly-awaited update on the 100,000 Genomes Project!

Will be on hand from 12 p.m. BST (1 p.m. CEST) at virtual poster stand P16.70.A to answer any questions about our work on analysis of RNA-seq in a Mendelian disease context, and the design of a new metric for predicting RNA-seq suitability between tissues! #ESHG2020

Very proud of our amazing Evolution, Infection and Genomics (EIG) UoM & North West Genomic Laboratory Hub team for well representing us & their works at #ESHG2020,well done everyone!! 👏👏Thank you for mentioning us in your tweets. John McDermott Dr Katherine Wood Charlie Rowlands Bill Newman Jamie Ellingford FBMH Doctoral Academy 🌎 Dian Donnai UoM Biology, Medicine and Health

Three outstanding talks on rare disease beyond the scope of typical Mendelian inheritance to kick off the third day of #ESHG2020. Interesting to see the juxtaposition of oligogenic and multiple phenotypes

Those with an interest in all things non-coding, please go and check out Jamie Ellingford's virtual poster on the incorporation of bioinformatics splicing prediction into variant analysis to benefit diagnostic rates and clarify variant impacts! #ESHG2020 virtualcongress.ctimeetingtech.com/eshg2020/atten…

Great start to #ASHG2021 yesterday - please feel free to drop by poster 2649 throughout the week to see our novel metric predicting relative tissue suitability for RNA-seq-based investigations of splicing. Thread of our main findings: x.com/j_ellingford/s…

When should you consider RNA-Seq for studies of Mendelian disorders? Rowlands et al. present a new metric, MRSD, to guide your decision-making process! bit.ly/3Iwfi9z