New multi-institute £5.5million @wellcometrust funded PARADIGM project to improve diagnosis in rare disease. It will couple functional genomics data with clinical and bioinformatics expertise to empower diagnosis and discovery in genomic medicine paradigmgenomics.org/
Great work #AlphaFold @emblebi These predicted structures can help us interpret the human microproteins we're annotating based on Ribo-seq and PhyloCSF. Like A0A669KAW2 (no name yet!), a recently discovered 42aa protein in the 5' UTR of TBPL1:
The Long-read RNAseq Genome Annotation Assessment Project #LRGASP challenge has started. @PacBio @nanopore @illumina data is now available. Challenge ends Sep 1 2021. Join this community effort & submit your predictions of transcript models/quantification. bit.ly/3eEhPCw
Many happy returns to our colleagues @genenames for their 40th Anniversary!
Replying to @ben_genomics
Human GENCODE25 now available for download from gencodegenes.org and @ensembl! 198093 total transcripts!!
Mouse GENCODE M10 now available for download from gencodegenes.org and also accessible/viewable via @ensembl
Abstract deadline for Barcelona #NGS16, focusing on genome annotation, is Jan 18. Details: ow.ly/VqDVO
EBI training course on 17th June for online resources for non-coding RNA. ow.ly/KRYwv










