Matt Hurles @mehurles
Director, Wellcome Sanger Institute. Decipherer of developmental disorders. Co-founder Congenica Ltd. Dad, husband, cyclist, gardener. Joined November 2012-
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Really excited to be part of the development of @PopResUK with great friends and colleagues. It will help to bring forward the best of #populationbasedscience for all. 🚨Posts coming soon re. jobs available in the team - for now - please check @BristolUni Jobs - search "PRUK"🚨
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!
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!
Today we are 10 @OpenTargets! Lots to celebrate and lots to look forward to working in partnership between industry and academia.
Today we are 10 @OpenTargets! Lots to celebrate and lots to look forward to working in partnership between industry and academia.
@ejhg_journal publishes paper on 2023 Mutational Scanning Symposium workshop examining potential clinical use of MAVE data. BBI's @lea_starita among @varianteffects members @FPRoth @mehurles @clare__turnbull @David_J_Adams @rubin_af nature.com/articles/s4143…
Someone’s gut bacteria can show if they would benefit from combination immunotherapy for multiple rare cancers. 🧫 This could help develop probiotics that modulate the #microbiome to support #cancer therapy from the inside. 💊⤵️ sanger.ac.uk/news_item/new-…
Last year, @deciphergenomic made the move over to EMBL-EBI after many successful years at @sangerinstitute and this year DECIPHER celebrates its 20th anniversary 🎉 Find out more about DECIPHER and the move over to EMBL-EBI. ebi.ac.uk/about/news/ann…
AMRC charities account for half of public investment in UK rare disease research. But they bring so much more than money to the landscape. Our new report showcases how charities are helping to transform the lives of the rare disease community: shorturl.at/dmzN1.…
The use of the phrase “ancestry-specific variant” is increasing, particularly to describe rare Single-nucleotide variants (SNVs). But these alleles are not ancestry-specific. They have not yet been found elsewhere, but they will be. 1/n
The Sanger Excellence Fellowship aims to increase the representation of researchers with Black heritage backgrounds in the UK. Read more about this in a new @eLife article by @EqualityScience, @David_J_Adams ,@Muzz_Haniffa , @guta1610 & Aidan Maartens⤵️ elifesciences.org/articles/94732
📰 Butterfly genomes have barely changed for 250m years, study reveals ✍️ @pgreenfielduk @guardian theguardian.com/environment/20…
Please consider signing this open letter that @wellcometrust board chair @JuliaGillard and I have decided to co-sign
Please consider signing this open letter that @wellcometrust board chair @JuliaGillard and I have decided to co-sign
Registration for the 7th Annual Mutational Scanning Symposium is now open! This year's meeting will be held from May 22nd-24th at the Broad Institute in Cambridge, MA, USA, and headlined by keynotes from Heidi Rehm and Vijay Sankaran 📝broadinstitute.swoogo.com/mss-2024
spread the word… @sangerinstitute excellence fellowship call is open! and how amazing is it that there is support for four fellows.
spread the word… @sangerinstitute excellence fellowship call is open! and how amazing is it that there is support for four fellows.
January 2024 Human Genetics Roundup Here is your opportunity to catch up on the most interesting human genetics stories from last month. The post covers the following papers: gwasstories.com/p/january-2024…
1. Really excited to share our work using saturation genome editing to generate a variant effect map of the gene DDX3X. nature.com/articles/s4146…. It’s been a privilege to lead this work together with @HongkeeT, with brilliant mentorship from @mehurles and @GeretySebastian. A 🧵:
New DDD preprint: outcomes following genetic diagnosis in >4200 families! TLDR: altered clinical management in >25% DD probands, diagnosis crucial for onward referrals and link to support groups. Thanks to all 24 regional genetics services in UK & Ireland! medrxiv.org/content/10.110…
The Atlas of Variant Effects (AVE) Alliance is an international collaborative founded in 2020 whose efforts are focused on developing, disseminating and democratizing the foundational experimental and analytical technologies for mapping variant effects. ℹ️varianteffect.org
Come be part of something amazing!
Come be part of something amazing!
Our 2023 Mutational Scanning Symposium, in association with @varianteffects, starts today! 🙌🏽 🎉 We're excited to be joined by participants from an incredible 50 countries (217 in-person & 190 virtual). 👋🏽 To stay connected on social use this hashtag 👉🏽#VariantEffect23
Great to see this out - a real community effort
Great to see this out - a real community effort
Veera Rajagopal @doctorveera
17K Followers 4K Following MBBS, MD, PhD | GWAS storyteller | Scientist at Regeneron | Human genetics & drug discovery in Neuroscience & Psychiatry | He/Him
Cecilia Lindgren @ceclindgren
8K Followers 1K Following Director of Oxford Big Data Institute. Proud mom of 3. Co-chair of @icdabio. Wellcome Trust Investigator. Promoting equality in academia. Love 🦈. #🕷🕸💙
Ewan Birney @ewanbirney
50K Followers 2K Following Deputy Director General of EMBL, Director of EMBL-EBI. I have an insatiable love of biology. @[email protected]. I also work with ONT, Dovetail + GeL.
Anshul Kundaje (anshu.. @anshulkundaje
22K Followers 2K Following Genomics, Machine Learning, Statistics, Big Data and Football (Soccer, GGMU). Post: @anshulkundaje, Threads: anshulkundaje
Nicky Whiffin @nickywhiffin
4K Followers 759 Following Associate Prof & Henry Dale Fellow @bdi_oxford @HumanGeneticsOx | Computational Rare Disease Genomics | Non-coding | @StAnnesCollege | @nickywhiffin.bsky.social
Michael Hoffman @mich.. @michaelhoffman
23K Followers 7K Following Chair, Comp Bio & Medicine Program, Princess Margaret Cancer Centre. Assoc Prof, Med Biophysics & Comp Sci, University of Toronto. COI https://t.co/CvupKNIjZr
Hilary Martin @hilsomartin
2K Followers 390 Following Group Leader in Human Genetics at the Wellcome Sanger Institute. College Research Associate at St John's College, Cambridge.
Michael Love @mikelove
18K Followers 5K Following I'm not on twitter anymore, find my on Bluesky or Mastodon
Abdel Abdellaoui @dr_appie
9K Followers 2K Following Complex Trait Genetics | Population Genetics | Evolutionary Genetics | @AmsterdamUMC | @UvA_Amsterdam
Aaron Quinlan @aaronquinlan
17K Followers 1K Following Genome mutation, software for genomic discovery. https://t.co/6GKjALLFfk Co-director, DELPHI Data Science Init.: https://t.co/8uWRcIzWRr
James Fasham @JamesFasham
3K Followers 3K Following 🧬👨⚕️Genetics doctor & PhD 💻 💬 Social media: @ESHGsociety @JMG_BMJ and @BritSocGenMed. 🤖 @DiseaseGenes bot creator (#Genetics #Genomics #RareDisease)
Andrea ganna @andganna
3K Followers 606 Following Associate Prof in health data science @HiLIFE_helsinki @FIMM_UH - MGH/Harvard - Playing with all kind of data - https://t.co/BffgAbQTls
Mike Inouye @minouye271
7K Followers 450 Following Computational biologist. Geriatric millennial. American Australian. Professor @Cambridge_Uni. Director of Data Sciences @BakerResearchAu. Director @CamBakerSGI.
Manolis Kellis @manoliskellis
25K Followers 4K Following Dissecting disease mechanism. Single-cell, Epigenomics, Regulatory Genomics, Disease Genetics, Brain, Cancer, Metabolism. @MIT Prof, @MIT_CSAIL, @BroadInstitute
Genomics England @GenomicsEngland
30K Followers 2K Following We’re working to enable faster and deeper genomic research, to bring genomic healthcare to all who need it.
Heidi Rehm @HeidiRehm
8K Followers 359 Following Genomic medicine researcher; chief genomics officer at MGH; clinical lab medical director at @broadinstitute; Tweets/views are my own.
@chris_wigley @chris_wigley
6K Followers 2K Following CEO Stealth HealthTech Co. Formerly: CEO at @GenomicsEngland; COO at @quantumblack; Partner @mckinsey; UK Foreign Service; @bbc. Views are personal.
Mick W@tson ↙️ @BioMickWatson
30K Followers 3K Following Bioinformatics | (meta) genomics | Data science. Some politics. Views are all my own and do not represent past, current or future employer.
Aylwyn Scally @aylwyn_scally
6K Followers 2K Following Human evolutionary genetics, University of Cambridge. @Cambridge_Uni, @GeneticsCam, @DarwinCollege 🇮🇪
Dan Landau @landau_lab
9K Followers 2K Following Cancer genomics, epigenomics and evolutionary dynamics (Weill Cornell/New York Genome Center). Hemato-oncologist (NYP). Discl.: https://t.co/tAu87FMVW3
Amir Gholizadeh @amrqhz
0 Followers 85 Following Pharmacist & Doing research about drug REPURPOSING | Computer stuff learner
Mohamed Wafik @mo__wafik
25 Followers 437 Following 🧬 Clinical Geneticist in London | Paediatric focus | Innovating patient care through genomics | Views are my own 🇬🇧 🇪🇬🔬
Stephanie Lo @stephlo_lo
1K Followers 924 Following Associate Professor @UniofBath and Translational Science Lead for Global Pneumococcal Sequencing (GPS) project @pneumowatch @sangerinstitute
Milner Centre for Evo.. @MilnerCentre
1K Followers 292 Following Milner Centre for Evolution @UniofBath We answer key questions, address real problems & promote dissemination of evolutionary science
Rachel G. Fox @rachelgiulia
553 Followers 2K Following neuro, genetics, data, & design 🧠 PhD student @UCLA w/@mfwells5 Formerly: @stevens1lab @BroadInstitute | @OHSUSoM | Reed College she/her | find me on bluesky
Cassi Lampman @LampmaCass
64 Followers 5K Following
Georgia 😳 @Georgia__D5779
3 Followers 215 Following Ravishing temрtrеss tеmрting with relеntlеss yеarning
Mia Bundette @bundette91505
93 Followers 5K Following
Yuyang Chen @quenchentin
116 Followers 49 Following PhD student - Computational Rare Disease Genomics group with @nickywhiffin, Big Data Institute, University of Oxford (https://t.co/bfBM3lqX75)
Katharine Sparrow @KatharineS93355
1 Followers 66 Following
Maryam Rahmat @MaryamRahmat22
1 Followers 32 Following
Josep M Mercader 🎗 @josep_mercader
489 Followers 486 Following Studying Genetics of type 2 diabetes and related complex traits at the Broad Institute and MGH
Philip Anderson @PhilipA289
97 Followers 230 Following
EMBLMicrobesTT @EmblMicrobesTT
417 Followers 250 Following Microbial Ecosystems Project from @embl Dissecting microbial functions and communities to understand how microbes interact with their environments.
Justin Echouffo Tcheu.. @BEchouffo
145 Followers 653 Following
Savannah-rose Harrima.. @RosHarrim
71 Followers 5K Following
Ihini Aambreen @ihini_2710
67 Followers 373 Following MPhil student in Archaeological Science @UCamArchaeology 💀🧬🦠 || Youth Advisor @archaeologyuk || BioAnth alumna @UniKentSAC
Alessandra Cure @Alessandra88636
63 Followers 5K Following
Ta Petti @pett_petti
57 Followers 5K Following
François Lecoquierre @francois_leco
192 Followers 150 Following
Emily Brookes @EBrookesNeuro
520 Followers 576 Following Group Leader in neuroepigenetics at the University of Southampton, working on enhancers in the brain
Ayat Pishner @APishner95726
75 Followers 5K Following
Jenni Jonasson @JonassonJenni
1K Followers 1K Following
Zara-rose Vanscoik @RosVanscoi
64 Followers 5K Following
ELSIhub | CERA @ELSIhub
923 Followers 843 Following https://t.co/ug2ahmuNnd is an online hub supporting work in #ELSI of #genetics & #genomics. Home of #ELSIFridayForum, #ELSIconversations, ELSIhub Collections, & TraineeHub.
Carmen Denman Hume, P.. @carmcden
518 Followers 1K Following Quite serious about my daily coffee ritual. Microbiologist by training, now in #scicomm @sangerinstitute.
Your Genome @yourgenome
1K Followers 334 Following Discover more about DNA, genes and genomes, and the implications for health and society. Your Genome is produced by @engageWCS
Steve Lianoglou @sonuvalianos
373 Followers 3K Following Improving human health with a keyboard. Creator of https://t.co/75sw7D1WGD: modular & interactive analysis tools for genomics in #rstats. Ghana #RPCV. Amateur Dad.
Max @Max_Logica
15 Followers 491 Following Maths, Logic, Science and lots of grey matter fun, including poetry!
Jyoti Nangalia @jyoti_nangalia
1K Followers 311 Following Blood cancer, clonal evolution and ageing | Discovered CALR mutations in MPN | Group leader @sangerinstitute and @SCICambridge | Haematologist @CUH_NHS
egenotegg @PehlivanogluEge
271 Followers 1K Following @MEME_evobio alumni, interested in human evolution, evolutionary anthropology, human behaviour, reproduction. she/her
Charles Lourenco @CharlesGenetics
190 Followers 755 Following Clinical Geneticist, PhD/MD Professor of Clinical Genetics and Hereditary Metabolic Disorders Faculty of Medicine of São José do Rio Preto (FAMERP) - Brazil
Damian Toczydlowski @DamToczydlowski
229 Followers 5K Following 𝐄𝐏𝐈𝐆𝐄𝐍𝐄𝐓𝐈𝐂𝐈𝐒𝐓 ★ Breaking 𝐓𝐡𝐞 𝐂𝐨𝐝𝐞 𝐨𝐟 𝐋𝐢𝐟𝐞 via 𝐄𝐏𝐈𝐆𝐄𝐍𝐎𝐌𝐈𝐂𝐒 & 𝐆𝐄𝐍𝐎𝐌𝐈𝐂𝐒 Pioneering 𝐏𝐑𝐄𝐂𝐈𝐒𝐈𝐎𝐍 𝐌𝐄𝐃𝐈𝐂𝐈𝐍𝐄
Douglas Scofield @dgscofield
509 Followers 1K Following Research bioinformatician, evolutionary biologist, math, bibliovore
Behavior Genetics Ass.. @BehaviorGenetic
2K Followers 368 Following International society supporting education and research on complex relationships between genes and environments.
Veera Rajagopal @doctorveera
17K Followers 4K Following MBBS, MD, PhD | GWAS storyteller | Scientist at Regeneron | Human genetics & drug discovery in Neuroscience & Psychiatry | He/Him
Cecilia Lindgren @ceclindgren
8K Followers 1K Following Director of Oxford Big Data Institute. Proud mom of 3. Co-chair of @icdabio. Wellcome Trust Investigator. Promoting equality in academia. Love 🦈. #🕷🕸💙
Ewan Birney @ewanbirney
50K Followers 2K Following Deputy Director General of EMBL, Director of EMBL-EBI. I have an insatiable love of biology. @[email protected]. I also work with ONT, Dovetail + GeL.
Anshul Kundaje (anshu.. @anshulkundaje
22K Followers 2K Following Genomics, Machine Learning, Statistics, Big Data and Football (Soccer, GGMU). Post: @anshulkundaje, Threads: anshulkundaje
Nicky Whiffin @nickywhiffin
4K Followers 759 Following Associate Prof & Henry Dale Fellow @bdi_oxford @HumanGeneticsOx | Computational Rare Disease Genomics | Non-coding | @StAnnesCollege | @nickywhiffin.bsky.social
Eric Fauman @Eric_Fauman
6K Followers 246 Following GWAS whisperer 'Nothing in biology makes sense except in the light of evolution' -Dobzhansky DMs open Executive Director, Integrative Biology @Pfizer
Hilary Martin @hilsomartin
2K Followers 390 Following Group Leader in Human Genetics at the Wellcome Sanger Institute. College Research Associate at St John's College, Cambridge.
Abdel Abdellaoui @dr_appie
9K Followers 2K Following Complex Trait Genetics | Population Genetics | Evolutionary Genetics | @AmsterdamUMC | @UvA_Amsterdam
Andrea ganna @andganna
3K Followers 606 Following Associate Prof in health data science @HiLIFE_helsinki @FIMM_UH - MGH/Harvard - Playing with all kind of data - https://t.co/BffgAbQTls
Mike Inouye @minouye271
7K Followers 450 Following Computational biologist. Geriatric millennial. American Australian. Professor @Cambridge_Uni. Director of Data Sciences @BakerResearchAu. Director @CamBakerSGI.
Genomics England @GenomicsEngland
30K Followers 2K Following We’re working to enable faster and deeper genomic research, to bring genomic healthcare to all who need it.
Heidi Rehm @HeidiRehm
8K Followers 359 Following Genomic medicine researcher; chief genomics officer at MGH; clinical lab medical director at @broadinstitute; Tweets/views are my own.
@chris_wigley @chris_wigley
6K Followers 2K Following CEO Stealth HealthTech Co. Formerly: CEO at @GenomicsEngland; COO at @quantumblack; Partner @mckinsey; UK Foreign Service; @bbc. Views are personal.
Serena Nik-Zainal @SerenaNikZainal
8K Followers 650 Following Professor of Genomic Medicine | #NHS | needs regular snacks | delivers an effective roundhouse kick | Though she be but little, she is fierce
David Adams @David_J_Adams
3K Followers 830 Following 🇦🇺/🇬🇧 👨🔬 🏃♂️ Cancer genetics, genome-editing @ scale, C8H10N4O2. The opinions expressed are mine alone.
NHS Genomic Medicine .. @NHSgms
7K Followers 816 Following Information for and from the NHS Genomic Medicine Service 🧬 #Genomics. https://t.co/MizyyMpX02…
Aylwyn Scally @aylwyn_scally
6K Followers 2K Following Human evolutionary genetics, University of Cambridge. @Cambridge_Uni, @GeneticsCam, @DarwinCollege 🇮🇪
Professor Dame Sue Hi.. @CSOSue
11K Followers 8K Following I am the Chief Scientific Officer for England and the Senior Responsible Officer for Genomics in the NHS
Graham Coop @Graham_Coop
20K Followers 3K Following Popgen @UCDavis. @[email protected] . Tweets, grammar, & spelling are my views only.He/him. #OA popgen book https://t.co/R6I2dcaEGf
SWAN UK (syndromes wi.. @SWAN_UK
9K Followers 4K Following SWAN UK (syndromes without a name) is run by @GeneticAll_UK offering support and information to families of children with undiagnosed conditions. #undiagnosed
CZI Science @cziscience
27K Followers 573 Following Supporting the science and technology that will make it possible to cure, prevent, or manage all disease by the end of the century.
Stephen Quake @StephenQuake
4K Followers 334 Following Head of Science @chanzuckerberg | Professor of #bioengineering and Applied Physics @stanford | Prolific #inventor focused on nexus of #biology, #physics + #tech
Gillian Tett @gilliantett
67K Followers 592 Following Provost of Kings College, Cambridge, Financial Times columnist, anthropologist, author of Anthro-Vision https://t.co/byn2Kku0qJ
John-Arne Røttingen @jarottingen
8K Followers 1K Following Chief Executive Officer (CEO) @wellcometrust
Loïc Yengo @LoicYengo
1K Followers 159 Following Snow Fellow | Group Leader | Statistical Genomics Lab at the Institute for Molecular Bioscience | The University of Queensland
David Hulcoop @DavidHulcoop
297 Followers 475 Following Executive Director Open Targets. I lead Open Targets bringing industry and academia together around drug target ID and prioritisation. All views my own.
Dian Donnai 🕷🇺�.. @Ddysmo
1K Followers 344 Following Emerita Professor of clinical genetics , honorary role in Saint Mary’s, long time Mancunian and NHS supporter. Enjoys travel and being a grandma!
Wellcome Connecting S.. @eventsWCS
11K Followers 3K Following Part of @connectingsci and funded by @wellcometrust, we fund, develop and deliver events focused on biomedicine and the application of genomics in healthcare.
KarolineKuchenbäcker @KKuchenbaecker
1K Followers 441 Following Professor of Genetic Epidemiology @UCL, investigating the genetics of complex traits in diverse populations; Scientific Lead for #DiverseData @GenomicsEngland
Nicole Mather @NicoleMatherLS
1K Followers 804 Following Partner, Life Sciences & Health Data Lead, IBM Consulting; NED Wellcome Sanger Genome Research Ltd; Formerly Director OLS, UK. [email protected]
Ian Dunham @DunhamReal
569 Followers 157 Following Director of Open Targets Current Favourites : Chromosome - Human 22, Locus : HLA, Glass - Effetre Ivory/Dark Lapis Blue
mara lawniczak @marakat
3K Followers 521 Following senior group leader @sangerinstitute. evolutionary geneticist malaria&biodiversity. lifetime member of darwin's posse. obsessive tidepooler. hearts cephalopods.
Sasha Gusev @SashaGusevPosts
9K Followers 3K Following Statistical geneticist. Associate Prof at @DanaFarber | @harvardmed | @DFCIPopSci
Naomi Wray @WrayNaomi
2K Followers 310 Following
Pete Mills @PeterFRMills
1K Followers 630 Following Director @PHGFoundation, making science work for health; navigating the intersections of (life)science, ethics and public policy; all views here my own
MarioniGroup @MarioniGroup
1K Followers 542 Following Epi/Genetic Epidemiology, Ageing, and Dementia Research at the University of Edinburgh. https://t.co/GMDzVC5Y5l
caroline relton @carolinerelton
838 Followers 225 Following
Geoff Ginsburg @PersonalizedMed
3K Followers 487 Following Innovating w genomics, digital tech, & data science to make a difference in people's lives; fmr Dukie now @ NIH All of Us Research Program. Views mine, not NIH.
Mariana Mazzucato @MazzucatoM
254K Followers 3K Following UCL Professor, Director of @IIPP_UCL. Author of: The Big Con; Entrepreneurial State; Value of Everything; Mission Economy. 4 kids keep me smiling
Ruth McBain @RuthMcIlkley
696 Followers 622 Following #ForestSchool #outdoorlearning POL #geology CGeol FGS CSci. Chair @BfdForestSchls Mbr @IlkleyFSCoop @FSAForestSchool @ClimateIlkley Assoc @GetOutMoreCIC She/her
Greg Findlay @TheGenomeLab
1K Followers 318 Following Group Leader of the Genome Function Laboratory @TheCrick (he/him)
Professor Dame Angela.. @uksciencechief
183K Followers 651 Following Tweets from the UK Government Chief Scientific Adviser and the Government Office for Science. Most tweets by officials.
Nick Chater @NickJChater
3K Followers 141 Following Professor of Behavioural Science, Warwick Business School, co-founder of Decision Technology Ltd and author of the Mind is Flat.
Maitreya Dunham @DunhamLab
5K Followers 2K Following My lab works on genome evolution using yeast genetics and genomics. Interim Chair Dept of Genome Sciences at UW. @[email protected] @maitreya.bsky.social
Sarion Bowers @SarionBowers
1K Followers 802 Following Head of Policy at the Sanger Institute where I get to combine my two passions of science and being opinionated. The many opinions expressed are my own.
John Burn-Murdoch @jburnmurdoch
491K Followers 6K Following Columnist and chief data reporter @FinancialTimes | Stories, stats & scatterplots | Senior fellow @LSEdataScience | [email protected]
Anna Gloyn @annagloyn
4K Followers 762 Following Prof of Pediatrics & Genetics 🧬 - Translational Genomics of Diabetes Lab #diabetes, #genetics #islets #womeninStem #teamscience
JillPell @jill_p_pell
285 Followers 10 Following Director of the Institute of Health and Wellbeing (@UofGIHW @UofGMVLS) at the University of Glasgow (@UofGlasgow). Henry Mechan Professor of Public Health.
Jess Phillips MP @jessphillips
665K Followers 4K Following Labour MP for Birmingham Yardley Instagram - @jessphillipsmp Promoted by John O'Shea on behalf of Jess Phillips, both at 62 Yardley Road, Acocks Green B27 6LG
Barbara Franke @BFranke_lab
1K Followers 396 Following Radboudumc and Donders Institute, Head of Cognitive Neuroscience department; passionate about understanding genetics & biology of ADHD and autism
Talkowski Lab @TalkowskiLab
1K Followers 148 Following Understanding the consequences of genomic variation in human disease.
Inigo Martincorena @imartincorena
5K Followers 568 Following Scientist. Group leader at the Sanger Institute, Cambridge UK. Somatic evolution in normal tissues, cancer and ageing.
Jillian Hastings Ward @HastingsJ123
2K Followers 1K Following 'that mother' - #R4Today🎙Independent Chair of Participant Panel @GenomicsEngland, founding board member @CureGRIN, Mum and wife. Write a bit. Views own
Albert Vilella @AlbertVilella
21K Followers 8K Following Next-Generation Sequencing, Single-Cell and Spatial Biology, Next-Generation Proteomics, Synthetic Biology, Compute Acceleration in Biotech.
Robert Plenge @rplenge
7K Followers 101 Following EVP, Chief Research Officer at BMS; physician-scientist; human genetics; father of 3 girls
Luke O'Connor @Luke0connor
2K Followers 317 Following Statistical genetics - Genetic architecture and disease biology - Assistant Professor @HarvardDBMI - he/him
James Ware @drjamesware
1K Followers 262 Following Clinician Scientist. Cardiovascular genetics, genomics in healthcare, inherited cardiac conditions, open science, patient participation. He/him. @CVGenomics
Benedetta Bolognesi @Bennibolo
1K Followers 1K Following Biologist, Explorer. Group Leader @IBECBarcelona. Protein Phase Transitions.
Lizzie Radford @Radford_EJ
78 Followers 130 Following Academic Clinical Lecturer in paediatric neurology at the University of Cambridge
The DDX3X Foundation @ddx3x
281 Followers 88 Following The DDX3X Foundation is a non-profit founded in 2016 to help find a cure for the DDX3X Gene Mutation. Visit us at https://t.co/scP8CHPvdt
Kresten Lindorff-Lars.. @LindorffLarsen
13K Followers 2K Following Protein and coffee lover, father of two, professor of biophysics and sudo scientist at the #LinderstrømLang Centre for Protein Science 🇩🇰 Same usr @ 🦋
Alexander Hoischen @ahoischen
2K Followers 605 Following Genomic technologies: WES/WGS, longreads, somatic mutations; Immuno-genomics: rare diseases; immunodeficiencies; inborn errors of immunity; clonal hematopoiesis
Alex Cagan @ATJCagan
14K Followers 3K Following Researching somatic evolution at the University of Cambridge and Wellcome Sanger Institute. Also a scientific illustrator.
Equality in Science @EqualityScience
2K Followers 3K Following All about equity, diversity, inclusion, justice in science. Tweets in personal capacity: Saher, Head of EDI @sangerinstitute
Aimé Lumaka @aimelumaka
367 Followers 444 Following MD, PhD. Professor of Genetics @ University of Kinshasa, DR Congo PI of the African Rare Diseases Initiative (ARDI) Director Réseau National Maladies Rares, DRC
Tanentzapf Lab @TanentzapfLab
18K Followers 379 Following A Cell & Developmental Biology lab @UBC working on the role of cell junctions in development, stem cells, tissue homeostasis. Same user name on Blue 🌌
Daniel Kahneman - what a life and what a loss. May his memory be a blessing. npr.org/2024/03/27/124…
Really excited to be part of the development of @PopResUK with great friends and colleagues. It will help to bring forward the best of #populationbasedscience for all. 🚨Posts coming soon re. jobs available in the team - for now - please check @BristolUni Jobs - search "PRUK"🚨
@mehurles 100% agree - @deciphergenomic is the gift that keeps giving. Why NHSE isn’t more accepting and welcoming of this is utterly bizarre…..
@dom_macski @mehurles @deciphergenomic We LOVE Decipher!!!! My total go-to for preliminary looking at variants. Wish I had more time to make better use of this brilliant and intuitive tool.
it would be interesting to do genome sequencing of other insect taxa from areas surrounding insecticide stockpiles.
Sanger Institute International Fellow @daniela_oaks @LIIGH_UNAM has been awarded a @wellcometrust Career Development Fellowship 🙌 Her research focuses on understanding the genetic causes of acral melanoma, a type of skin cancer Find out more ⬇️ sangerinstitute.blog/2024/03/21/stu…
Ionis has announced positive results from the phase II trials on their ASO drug targeting DGAT2, one of the two enzymes involved in triglyceride synthesis (ir.ionispharma.com/news-releases/…) You might remember a thread I wrote last year on the failure of AstraZeneca's DGAT1 small molecule…
I am always on the lookout for cool examples of human genetics informing drug adverse effects. Here is an interesting one I recently came across in this great review article 🧵 nature.com/articles/s4157…
A bit belated, but I am thrilled to receive the notice of award for my lab's first R01 from the @genome_gov!! I'm extremely thankful for their early career support, and for the many mentors, co-Is, letter writers, and team members who contributed. Excited to get into the work!
@ejhg_journal publishes paper on 2023 Mutational Scanning Symposium workshop examining potential clinical use of MAVE data. BBI's @lea_starita among @varianteffects members @FPRoth @mehurles @clare__turnbull @David_J_Adams @rubin_af nature.com/articles/s4143…
happy international women’s day and shout out to @teichlab and @Muzz_Haniffa and @EqualityScience for their flawless and frequent recognition and promotion of other women
Fantastic to host Dame Kay Davies @sangerinstitute to celebrate #International_Womens_Day 2024 - fabulous turn out to hear her career journey and reflections Thank you Steph, @EqualityScience @teichlab @marakat
Someone’s gut bacteria can show if they would benefit from combination immunotherapy for multiple rare cancers. 🧫 This could help develop probiotics that modulate the #microbiome to support #cancer therapy from the inside. 💊⤵️ sanger.ac.uk/news_item/new-…
Really happy to see our paper on the population history of Eastern Arabia finally published! cell.com/cell-genomics/…
This year's celebration of the #RareDiseaseDay includes the inauguration of the brand new Reference Center for Rare and Unduagnosed Diseases at the University hospitals of Kinshasa. Funding from the @WilhelmFound and the @genome_gov
I really agree with Molly here, in particular the last tweet in this thread that the focus on genetic diversity might strangely bias us - we also need environmental (in particular social environment) diversity which is a big determinant of how humans live their lives.
I have been following the discussion around how best to represent and label human genetic variation, and thought it might also be worth discussing an aspect of the broader context. 1/n
I have been following the discussion around how best to represent and label human genetic variation, and thought it might also be worth discussing an aspect of the broader context. 1/n
Very much looking forward to becoming the next Director of the @MilnerCentre Some really wonderful colleagues carrying out excellent fundamental research into evolution. Looking forward to adding an ancient biomolecules strand to the research portfolio and with public engagement…
'Studying life without understanding evolution is like studying chemistry without atoms' says Matthew Wills, Director of the @MilnerCentre. 🔬 Find out more about the Centre and its ground-breaking evolutionary research below. sponsored.chronicle.com/learning-from-… #ResearchWithImpact
Göteborgsvarvet, the largest half marathon in the world with a race course throughout the streets of Gothenburg 18 May 2024 I am running in memory of lost babies - with love for my friends and family - anyone afflicted #itmatters justgiving.com/page/cecilia-l…
DECIPHER has a new handle! To better reflect our URL and to make it easier to find us, we are now @deciphergenonomic
January 2024 Human Genetics Roundup Here is your opportunity to catch up on the most interesting human genetics stories from last month. The post covers the following papers: gwasstories.com/p/january-2024…
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