Matt Hurles
@mehurles
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Director, Wellcome Sanger Institute. Decipherer of developmental disorders. Co-founder Congenica Ltd. Dad, husband, cyclist, gardener.
Joined November 2012
Really excited by this preprint going live on positive selection in the male germline. Lots of cool insights, including unexpectedly high prevalence for tens of rare diseases.
Excited to share our new preprint in which we address:.(1) Accurate sequencing of sperm at scale.(2) Positive selection of spermatogenesis driver mutations across the exome.(3) Offspring disease risks from male reproductive aging.[1/15].
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Good to see ukbiobank issuing a robust statement addressing these concerns openly. A bit concerning to learn that the Guardian may not have shared all the information that could have helped with ukbiobank’s investigation.
Read our statement about an article in @guardian about potential misuse of UK Biobank data:
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RT @sangerinstitute: Professor Nick Thomson has been appointed Head of the Parasites and Microbes Programme. 🦠🧫🧬. Head to our website to le….
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RT @sangerinstitute: 📰UK innovation will be undermined by science department Budget squeeze, industry leaders warn. ✍️ @FT (£) . https://t.….
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RT @MatthewACoelho: Today we report in @NatureGenet the genetic landscape of cancer drug resistance mechanisms from CRISPR base editing scr….
nature.com
Nature Genetics - Base editing screens of 11 cancer genes identify four functional classes of variants that collectively underpin sensitivity and resistance to ten commonly used drugs in cancer...
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RT @jarottingen: We at @wellcometrust have joined many UK science organisations in signing a letter to the chancellor ahead of the budget a….
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RT @Garnettlab: Delighted to share our work in @NatureGenet using base editing to map genetic mechanisms of drug resistance. If you're int….
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RT @carolinefwright: Thank you to the many clinicians, scientists, patients and families involved in the DDD study, @sangerinstitute @Helen….
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RT @David_J_Adams: Well done to Andrew Waters from the lab for delivering our study on saturation editing of BAP1.
nature.com
Nature Genetics - Saturation genome editing characterizes BAP1 variants and their association with disease presentation. A phenome-wide association analysis in the UK finds that BAP1 variants...
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It was an absolute treat to spend some time with so many future leaders in global genomics. Easy to be optimistic about the future in such company.
Great close to the @sangerinstitute #internationalfellows retreat. Was great meeting PhD students and postdocs! Until next time 😊 @oliviajbirungi @bmgichuki @popgen_oumie @chewapreecha @AA_Ngwa @ANakimuli @LawleyLab @mehurles @ee_davenport @Muzz_Haniffa & others!
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RT @nic_timpson: Really excited to be part of the development of @PopResUK with great friends and colleagues. It will help to bring forward….
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Very cool - kudos to the Decipher team. Now clinicians and clinical scientists can see diagnostically useful functional data on individual variants in the same clinical interpretation platform they were using already. A key step in the MAVE revolution!.
Functional data from Multiplexed Assays of Variant Effect (MAVEs) from the MaveDB repository are now displayed on functional tabs. Links to experimental design and score sets in MaveDB are provided, in addition to publication(s) links @varianteffects @rubin_af
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RT @DavidHulcoop: Today we are 10 @OpenTargets!. Lots to celebrate and lots to look forward to working in partnership between industry and….
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RT @BrotmanBaty: @ejhg_journal publishes paper on 2023 Mutational Scanning Symposium workshop examining potential clinical use of MAVE data….
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RT @sangerinstitute: Someone’s gut bacteria can show if they would benefit from combination immunotherapy for multiple rare cancers. 🧫. Thi….
sanger.ac.uk
The microbiome can identify those who benefit from combination immunotherapy across multiple different cancers, including rare gynaecological cancers, biliary tract cancers and melanoma.
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RT @emblebi: Last year, @deciphergenomic made the move over to EMBL-EBI after many successful years at @sangerinstitute and this year DECIP….
ebi.ac.uk
Closer collaborations with EMBL-EBI data resources set to further develop and grow this unique rare disease platform.
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RT @Graham_Coop: The use of the phrase “ancestry-specific variant” is increasing, particularly to describe rare Single-nucleotide variants….
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RT @sangerinstitute: The Sanger Excellence Fellowship aims to increase the representation of researchers with Black heritage backgrounds in….
elifesciences.org
The Sanger Excellence Fellowship has been established to increase the representation of researchers with Black-heritage backgrounds at a leading research centre in the UK.
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