ExeterGenomes
@ExeterGenomes
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Latest news and updates from the exome and genome sequencing service at the Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust
Exeter, England
Joined May 2017
RT @adam_jackson89: We are excited to share our new paper out today in Nature Genetics which explores de novo mutations in DNA secondary st….
nature.com
Nature Genetics - Genomic analyses focused on regions that form R-loops identify rare mutations in RNU2-2 and RNU5B-1 in individuals with neurodevelopmental disorders.
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RT @JamesFasham: C01.01 First livetweet (yes I'm a bit old school) of #ESHG2025 for me. 🔍Diagnosis detective Susie Walker from @GenomicEngl….
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RT @JamesFasham: Phasing ✅ Parent of Origin ✅ SV resolution ✅ from *short* read WGS with @illumina Constellation technology. Haven't heard….
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RT @platzer_k: Happy to finally share our latest Mendelian gene discovery work on #KDM2A where de novo variants cause a syndromic neurodeve….
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RT @EpiGenRare: 📢Call for Abstracts - 1st EpiGenrare Conference. 📃Please submit before 17thFeb using link below:. E….
tickettailor.com
The 1st EpiGenRare Conference will bring together the highest quality research from across the globe in the field of rare epige...
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RT @genomicsedu: We’re pleased to share that registration for the Genomics Training Academy (#NHSgtac) learning environment is now availabl….
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RT @drkarenlow: GenROC has been open for almost 2 years. We will close to new participants in 4 days but there is still space so don't mis….
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RT @Unique_charity: Support, knowledge & community can change lives. Swipe to read heartfelt stories from some of the brilliant scientists,….
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RT @Unique_charity: New Guide Available: ReNU syndrome (RNU4-2) 🧬. We're pleased to announce the release of a new guide on ReNU syndrome, a….
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RT @CSOSue: On #InternationalDayofWomenandGirlsinScience I want to thank all the women working in healthcare science across the NHS and the….
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RT @Unique_charity: If you or someone in your family has had genome sequencing through the NHS, we want to hear your opinions. This will he….
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RT @DrHKRobinson: @ExeterGenomes are celebrating!! The team in Exeter have been delivering diagnoses for children with rare genetic disease….
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RT @CSOSue: As we approach the year's end, I want to say a heartfelt thanks to the NHS healthcare science community and I hope you can take….
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RT @JamesFasham: 👀 Consultant job advert👇. Come and work with us in the beautiful South West of England. Home of 🌊🌳and world leading 🧬 (@….
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RT @AnaJuett: So pleased to see the work of the SW team delivering testing for actuely unwell babies and children highlighted today and the….
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RT @smbanka: 🚨New Fully funded PhD opportunity🚨. Examining the role of G-quadruplexes🧬in genetic disorders to disc….
findaphd.com
PhD Project - (Bicentenary) Examining the role of G-quadruplexes in genetic disorders to discover new diseases and mechanisms at The University of Manchester, listed on FindAPhD.com
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RT @taylorlabncl: Great to see this work finally out Lindsey!. @yasmintangjx .@MitoMonika .@RDExeter .@EllardSian .@ExeterGenomes .@NEYGeno….
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RT @annnlynch: Our report on gaps in genetic services is now available online from our funders @AdelaideHealthF website. Thank you to them….
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RT @NicoleLake: Excited to share our @Nature paper introducing constraint metrics for #mtDNA! Constraint models are powerful tools that wer….
nature.com
Nature - Development of a constraint model specifically for mitochondrial DNA and applied to data from the Genome Aggregation Database provides insights into which sites in the mitochondrial genome...
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RT @nickywhiffin: This is such a beautiful paper led by @ChristelDepienn and Caroline Nava, further characterising ReNU syndrome (caused by….
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