Discover and read the best of Twitter Threads about #MANEPlusClinical

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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 🧬 Screenshot of the transcript table of the LAMA3 gene in the
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. Screenshot of the transcript table of the LAMA3 gene in the
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. Screenshot of the transcript table of the LAMA3 gene in the
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