Top Tweets for #VariantEffect22
πΊπ€©ποΈπΌOur youtube recommendation of the day- videos from last years 2022 Mutational Scanning Symposium. #VariantEffect22 #Science #FunctionalGenomics @varianteffects
https://t.co/Pcp16ArFur
@FPRoth takes mixed audience of technology-scientists, computational biologists and clinicians at Leiden #HBOCVUSmeeting through ups and downs of development of variant maps for HBOC genes such as CHEK2. Solving the VUSs...
#VariantEffect22 @varianteffects
Beautiful analysis presented last week in Toronto at #varianteffect22 AVE alliance meeting. Beautifully exemplifies the power to advance variant interpretation of MAVEs (systematic comprehensive multiplexed functional assays)
Really excited to present a π§΅on our new preprint https://t.co/vN0OEGltBn, using saturation mutagenesis to determine the function effect of >12,500 variants, including all SNVs, in the gene DDX3X. Work lead by @HongkeeT, Lizzie Radford and @GeretySebastian.
Recently saw @mehurles present this work at #VariantEffect22. Amazing work in its own right but also paints a very exciting future for variant interpretation and the synergy of experiment and machine learning! Congrats to all involved!
@GeretySebastian Have just seen @mehurles presenting this work at the #VariantEffect22 symposium. Amazing depth of analysis. Congratulations!!!
Mindblown by @AngelFCC119 's poster from @landrychristian lab about multi-expression level #VariantEffect22 maps. Checkout poster #B06 if you are around!
Had a great time with the @OctantBio DMS crew at #VariantEffect22! Loved the Toronto hospitality @FPRoth!
CMAPs @dougfowler42 was one of the Keynote speakers for #VariantEffect22 ! "What do we need to scale multiplexed assays to all the genes in the genome?" #functionalgenomics #mutationalscanning
Doug Fowler on what we need to scale multiplexed assays to all genes in the genome. Great examples of assaying secreted proteins and cellular morphology #VariantEffect22
CMAP team members @ShawnFayerGC (@uwgenome University of Washington) and @jweile (University of Toronto) presenting at #VariantEffect22 #functionalgenomics #clinicalinterpretation
Shawn Fayer and Jochen Weile on translating multiplexed variant effect assays into evidence codes for clinical interpretation #VariantEffect22
Closing talk of #VariantEffect22 by @mehurles on saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variation
Belinda Chang on mutational landscapes and the adaptive evolution of rhodopsin #VariantEffect22
Great talks and science #VariantEffect22, but the possibility to play tetris in the Gathertown garden house is really the π on β°
Have to give a special shout out to my old labmate @willowcoyote, presenting on a library generation method, DIMPLE, to address the difficulty in making systematic indel libraries. He recently started as a Hannah Gray Fellow, go check out his work! #VariantEffect22
Lightening talks round 2 at #VariantEffect22
Lightening talks round 2 at #VariantEffect22
What a honour to be sketched by @ATJCagan at #VariantEffect22. Has already been such a great workshop
Mafalda Dias on predicting the effect of genetic variation using deep generative models #VariantEffect22
Mafalda Dias on predicting the effect of genetic variation using deep generative models #VariantEffect22
Shawn Fayer and Jochen Weile present double-hander to #VariantEffect22 on translating multiplexed variant effect assays into ACMG evidence codes for clinical interpretation
Shawn Fayer and Jochen Weile on translating multiplexed variant effect assays into evidence codes for clinical interpretation #VariantEffect22
.@LindorffLarsen on disentangling stability-activity-folding contributions of variants that are important for fxn and using this data to predict effect mechanism for disease variants #VariantEffect22
Kresten Lindorf-Larsen on combining evolutionary sequence conservation and protein stability assay data to inform our understanding of protein function #VariantEffect22
Kresten Lindorf-Larsen on combining evolutionary sequence conservation and protein stability assay data to inform our understanding of protein function #VariantEffect22
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