alistair pagnamenta

How much diagnostic yield is lost when we focus on a single transcript?
Our new preprint systematically evaluates MANE Plus Clinical transcripts using variants from #ClinVar and @GenomicsEngland, highlighting implications for genomic diagnostics. researchsquare.com/article/rs-968…
#Genomics

funnily enough “exon” was not in my parents 1951 edition of the concise @OED

Pleased to share our new preprint “Long-read genome sequencing resolves a complex structural variant involving TBCD and exposes a gap in existing variant classification frameworks” researchsquare.com/article/rs-962… #RareDisease

congrats @DrJennyLord it is great to see this preprint out. Exemplar cases highlights value of intersecting Outrider with exomiser and with SVcalls and also manual checking of alignments where there is strong phenotype match.

congrats Neel - great to see this story of a 30+ year odyssey for family from @GenomicsEngland's 100kGP involving rare final exon deletion and picked up using @logust79's SVRare published