Cross-protein transfer learning substantially improves zero-shot prediction of disease variant effects
#transferlearning #Mutation #variantinterpretation #disease
I am a #bioinformatics scientist and work in #protein #sequence #structure and #genome informatics. I work mostly in the space of tertiary genome analysis and I enjoy combining my IT and #science skills.
#variants #VariantInterpretation #GeneChat #Nachhaltigkeit #energiewende #mobilität #renewables #raspberrypi #synology #genomics #genome #variant #fedi22 #introduction
#bioinformatics #protein #sequence #structure #genome #science #variants #variantinterpretation #genechat #nachhaltigkeit #energiewende #mobilitat #renewables #raspberrypi #synology #genomics #variant #fedi22 #introduction
Planned review of #variant significance is important #variantinterpretation https://pubmed.ncbi.nlm.nih.gov/35306447/
#variant #variantinterpretation
I haven’t found a paywall free version of this news yet, but looks like #Myriad is going to submit all their variants to #ClinVar. Data sharing is critical for genetic testing! https://www.precisiononcologynews.com/molecular-diagnostics/myriad-genetics-submit-hereditary-cancer-risk-variants-clinvar-2023#.Y2L8FvdlC_Y #variantinterpretation #cancer
#Myriad #ClinVar #variantinterpretation #cancer