ISHG
@IrishSocGen
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Irish Society of Human Genetics: Annual Conference, jobs listings, retweets for new research, human genetics on the island of Ireland. @ishg.ie on bluesky
Joined April 2019
The ESHG Precision Medicine Team are excited to announce that registration is now open for the European Society of Human Genetics (ESHG) Precision Genomic Medicine Workshop 2025. See for details.
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Our keynote speaker from last year's conference! Congratulations Prof @aoifemcl
Professor Aoife McLysaght has been appointed Government Science Advisor. Prof McLysaght will offer guidance to the Government on a range of issues including climate change, food sustainability, AI, cybersecurity and more. Read more🔗
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RT @GenomicsCRT: REGISTRATION for VIBE-ICBG24 now OPEN ! Fantastic opportunity for early career researchers in genomics/bioinformatics/com…
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A warm introduction from Derek Morris and now Michael Gill takes the stage to summarize an impressive career
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Very slick slides and impressive overview of how the technology is rapidly improving, allowing for testing lots of gene functions fast using the zebrafish model
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Closing out the clinical session is Anna Ridgeway talking about IFT140 related retinal dystrophy in Irish patients #ISHG2024
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Mark Doherty from Genomics England takes the stage to tell us about DRAGENv4.0. This is software for short read sequencing alignment #ISHG2024
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Next up Emma O'Donoghue will talk about direct to consumer genetic testing, based on the experience if two service providers in Ireland #ISHG2024
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Shauna Quinn is telling us about inherited autosomal recessive disorders in Roma population
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Our first speaker in the clinical session is Cliona Carroll to talk about evaluation of GLA variants of uncertain significance #ISHG2024
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Finally in the session is Glazier Ventura who will talk about using CRISPR to create ciliopathy models in C Elegans
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