Legged it over to Space 3 #ESHG2025 for the late breaking abstract session and a sense of deja vu from Berlin #ESHG2024 with @nickywhiffin.bsky.social presenting more beautiful RNU4-2 work!
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#eshg2024
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@igmgroup.bsky.social at #ESHG2024. Check out our work incl.
Posters
- audit of paediatric GT for inborn errors of immunity & impact of mainstream model
- development of clinician education for PRS
Oral presentation Mon 10:30am
-interviews with families re. their experience with mainstream genomics
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The abstract book of #eshg2024 has just been published by EJHG Journal:
nature.com/ejhg/article...
#abstracts #genetics #genomes
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There is still time to watch #eshg2024 presentations on virtual platform #genetics #genomics till the end of the month.
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Well, that was a blast! Thank you everyone at #eshg2024 for 4 days of inspiring and insightful talks and posters! We‘re proud to have contributed as well with a couple of posters, one of which you can see here, obscured by Laura @kilarski.bsky.social ;) Looking forward to the next one in Milan!
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Thank you @eshgsociety for another brilliant conference #eshg2024! Wonderful to catch up with so many friends and colleagues 🤗 🌏🧬
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We're at #ESHG2024!
Have you had a chance to talk to our team? (Genetic Analysis contingent pictured below)
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Starting now in A6/7 #eshg2024 Nonsense mediated mRNA decay: variant interpretation challenges with @GeczSquadGoals and @GenomeSeb
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More on automated reanalysis in A1 #eshg2024 @DanyaVears @MCRI_for_kids What do professionals, patients and the public think? Many benefits but concerns about process issues, oversight by humans, consent and recontact
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On now A5 #eshg2024 @mmartyn8 : two-step offer of opportunistic screening in acute Paediatrics 6 months post diagnostic result. Adult, Paediatric and reproductive screening offered #GeneticsAdviser @ClaraGaff @YvonneBombard @AusGenomics 42% uptake
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Continuing the 🇦🇺 theme in A5 #eshg2024 @Bec_Purvis and #implementation of PRS in cancer genetics clinics
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Next up #eshg2024 winner 🏆 of Leena Peltonen award @SashaGusevPosts amazing journey through population and statistical #genomics moving towards mechanisms and predicting treatment responses!
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Great quote @ksamocha #eshg2024! average of 7 pathogenic variants per individual in @gnomad_project v4. Mostly for AR conditions but 734 LoF variants in 77 haploinsufficient genes. Dig deeper and 70% do not truly result in LoF: manual #curation important!
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Excited to be in Berlin for #eshg2024! Fantastic to hear @ksamocha talking about @gnomad_project V4: an absolute tour de force!
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Already had very interesting talks in the #Paleogenomics session and saw interesting (unsolved) clinical cases at the #dysmorphology workshop. Now on to the plenary opening…
#ESHG2024 #HumanGenetics #juhumgen #ESHG
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Anyone going to #eshg2024 which is starting tomorrow? Did you already choose your first session on the morning? I’m still undecided due to the great options…
#humangenetics #eshg #gfh
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Getting excited about ESHG 2024! #eshg2024
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Researchers across Europe are praising AVITI's ease of use, cost-effectiveness, and high-quality results. Read more in our press release about the impact AVITI has made in advancing their scientific research, and come see us at #ESHG2024 in 🇩🇪 Berlin! bit.ly/4bUKzRW
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