Discover and read the best of Twitter Threads about #MANEPlusClinical
Most recents (1)
1/ My favourite gene has 15 transcripts, which one should I use for further analysis? To report the position of variants? To design primers for? 🤯
This #tweetorial will show you how to filter and prioritise transcripts… 🧵
#genomics #bioinformatics #Ensembltraining 🧬
This #tweetorial will show you how to filter and prioritise transcripts… 🧵
#genomics #bioinformatics #Ensembltraining 🧬
2/ To start, look for the #canonical tag in the flags column of the transcript table. The canonical transcript is based on conservation, expression, concordance with @appris_cnio and @uniprot, length, clinically important variants and completeness.
3/ Many Ensembl #canonical transcripts will also be the #MANESelect, which is our collaboration with @NCBI. These transcripts match perfectly with RefSeq transcripts, so are the best to report variant location.
