The Neurogenetics Lab ION @qs-neurogenetics.bsky.social The Neurogenetics lab at UCL ION led by Professor Henry Houlden is dedicated to discovering new genes and disease mechanisms linked to neurological disorders. Neurogenetics.co.uk
@single-molecule.bsky.social @single-molecule.bsky.social Electronic Genome mapper (EGM) using Nabsys OhmX, NGS, DNA, genomics, structural variants, fact-based politics, a little sports
Rita Barbosa-Matos @ritabmatos.bsky.social 
Juliana Miranda Cerqueira @julianamiranda.bsky.social Doctoral researcher @CeliRes_TAU | @TampereUniMet | Former member & Consultant @eshgyoung.bsky.social
Christian Schaaf @cpschaaf.bsky.social Medical Director and Department Chair, Institute of Human Genetics, Heidelberg University
Jessica Chong @jxchong.bsky.social Associate Professor. UW Center for Rare Disease Research, @MyGene2, Deputy Editor of @HGGAdvances. #raredisease genetics. CovidWA data
Kaitlin Samocha @ksamocha.bsky.social Assistant Investigator @ MGH / Broad / HMS. Focus on human genomics and modeling rare variation. She/her
Kevin Mitchell @wiringthebrain.bsky.social Neurogeneticist interested in the relations between genes, brains, and minds. Author of INNATE (2018) and FREE AGENTS (2023)
Adam Phillippy @aphillippy.bsky.social Finished a human genome @ NHGRI, working on a few hundred more @ Johns Hopkins University 👨💻
Lab: https://genomeinformatics.github.io
Michael Hoffman @michaelhoffman.bsky.social Chair, Computational BIology and Medicine Program, Princess Margaret Cancer Centre, University Health Network.
Associate Professor, Medical Biophysics, University of Toronto.
Disclosures: https://github.com/michaelmhoffman/disclosure/
Robin Hofmeister @rjhfmstr.bsky.social Postdoc with Z.Kutalik | research fellow with Lili Milani | Statistical modelling of haplotypes - parent of origin | skier, climber, windsurfer
Lili Milani @lilimilani.bsky.social Head of Estonian Biobank & Professor of Pharmacogenomics at the Estonian Genome Centre, University of Tartu.
Tuuli Lappalainen @tuuliel.bsky.social Professor at KTH, NY Genome Center, SciLifeLab, working on functional genomics and human genetics.
Tom Wright @tomwrightuom.bsky.social 👨⚕️ UK Clinical Genetics SpR/Resident (OOPR)
🧬 PhD Researcher @fbmh-uom.bsky.social #RareConditions #Genomics #MentalHealth #DataScience @mft-imrare.bsky.social
💗 Proud Husband/Dad/Son/Sib + 🎭🎨🎾⚽️
Piero Carninci @carninci.bsky.social Interested in genomics, RNAs and lncRNAs, genome regulatory elements. Labs at the Human Technopole in Milan and RIKEN in Yokohama. Hobbies include football (intended as soccer or calcio) and other sports.
Ewan Birney @ewanbirney.bsky.social Director of EMBL-EBI. I have an insatiable love of biology. Consultant to ONT and Cantata (Dovetail)
Claudia Gonzaga-Jauregui @cgonzagaj.bsky.social Human Geneticist/Genomicist working on Mendelian & rare genetic disorders to enable Precision Medicine. Opinions are my own.
@cgonzagaj everywhere 🐦🦣☁️🧵
Brian Krueger, PhD @h2so4hurts.bsky.social Scientific strategist | Storyteller | Genomics, Lab diagnostic and high throughput automation | Coder | Comments are my own | Omic.ly
BF Francis Ouellette @bffo.bsky.social Bioinformatics 🧬🖥️🧪
#DATABASE OUP Editor-in-Chief;
#PLOS Comp Biol Education Sect. Editor;
#OpenScience #OpenAccess #OpenData;
friend of @jxtxfoundation.bsky.social,
@abinstitute.bsky.social, @mon-bug.bsky.social
- I am 🇨🇦
Mike Inouye @mikeinouye.bsky.social Computational biologist. Geriatric Millennial. Professor, University of Cambridge. British | Australian | American.
www.inouyelab.org | Cambridge, UK
Pilar Cacheiro @pilarcacheiro.bsky.social Computational biologist. Genetics of Rare Diseases, Essential Genes, Statistics, R.
Honesty matters.
Heather Mefford, MD, PhD @hcmefford.bsky.social Physician scientist @ St. Jude
(neuro)genetics | genomics
epilepsy | rare disease | precision medicine
Sara Bizzotto @sarabiz86.bsky.social Group Leader at Imagine Institute | Inserm | Neurogenomics | Somatic mosaicism | Neurodevelopment | Lineage tracing | Developmental disorders | DRN board member
Elfride De Baere @elfridedebaere.bsky.social Professor @UGent I Rare eye & developmental diseases I IRD I Retina & RPE I Non-coding variation I Multiomics I Targets for treatment
debaerelab.com progret.eu
Zornitza Stark @zornitza.bsky.social Clinical Geneticist, VCGS. Professor, University of Melbourne. Rare disease genomics. 🧬🇦🇺
Maud Borensztein @maudborensztein.bsky.social Group Leader @igmm-montpel.bsky.social 👩🔬
Passionate about Development, Epigenetics and Reprogramming 🐭🧬🔬
X-chromosome inactivation aficionado!
https://www.igmm.cnrs.fr/en/team/epigenetic-reprogramming-and-mammalian-development/
Stephen Burgess @stevesphd.bsky.social Medical statistician, work with genetic data to disentangle causation from correlation. Author of book on Mendelian randomization.
Kaur Alasoo @kauralasoo.bsky.social Associate Professor of Bioinformatics at University of Tartu, Estonia. Project lead at eQTL Catalogue. https://kauralasoo.github.io/
Simon Fisher @profsimonfisher.bsky.social Director of Language & Genetics at Max Planck Institute, Nijmegen.
Tracing the complex connections between genes, brains, speech & language.
Website: https://www.mpi.nl/people/fisher-simon-e
ORCID: https://orcid.org/0000-0002-3132-1996
@mspielmann.bsky.social @mspielmann.bsky.social 
Heidi Rehm @heidirehm.bsky.social Genomic medicine researcher; chief genomics officer at MGH; clinical lab director at @broadinstitute
Duncan Sproul @sproullab.bsky.social Group leader at MRC Human Genetics Unit, University of Edinburgh. Interdisciplinary research on disease #epigenetics. Part-time solo dad. Occasional music and climbing.
https://institute-genetics-cancer.ed.ac.uk/research/research-groups-a-z/sproul-group
Prof Gina Ravenscroft🇿🇦🇦🇺 @ginaravenscroft.bsky.social Rare & neuromuscular disease researcher at UWA & the Harry Perkins Institute, Perth 🇦🇺
Passionate about #sciencefunding, #womeninSTEM, #EMCRs
Mum of 👦👧🐶
Posting about genomics, rare disease, PI life & wine
https://www.ravenscroftlab.com
Marco Vismara @marco2323.bsky.social MD, specialist and PhD in medical genetics. Journalist. BioNerd. Love hiking and nature 💚
Na Cai @caina89.bsky.social Assistant Prof at D-BSSE, ETH Zurich, studying genetics of complex traits, with a focus on psychiatric disorders
www.nacailab.com
Annique Claringbould @anniquec.bsky.social Assistant Professor 👩🏼💻 at Erasmus Medical Center Rotterdam researching genetics & gene regulation 🧬🖥 in the context of disease 🥼💉📊
https://anniqueclaringbould.github.io/
De Camilli Lab @pdc-lab.bsky.social Laboratory of Pietro De Camilli - Department of Neuroscience at Yale University
Jodie Ingles @jodieingles27.bsky.social Head, Clinical Genomics Lab | Director, Genomics & Inherited Disease Program, Garvan Institute, Sydney | Cardiac Genetic Counsellor | Feminist | Willow’s human | Swiftie 🫶🏻 #cardiogen #genechat #cardiosky
Chris Gunter 🧬 @girlscientist.bsky.social Genetics/genomics. Here in my personal capacity. Google Scholar: https://scholar.google.com/citations?user=A0oDqUQAAAAJ&hl=en
Daniel MacArthur @dgmacarthur.bsky.social Genomics, big data, open science, diversity. Director of the Centre for Population Genomics, focused on building a more equitable future for genomic medicine. Opinions my own.
Sally Ann Lynch @sorchainenil.bsky.social Geneticist & cyclist & lots more! Beagáinín gaelige 🇮🇪
People.ucd.ie/sally.lynch
ACMG @theacmg.bsky.social American College of Medical Genetics and Genomics (ACMG): Translating Genes into Health® @gimopenjournal.bsky.social #ACMGMtg26 #ACMGFoundation https://www.acmg.net/
Site Use http://bit.ly/2Xgjd6l
Genome Research @genomeresearch.bsky.social A leading peer-reviewed genomics journal. https://genome.cshlp.org
Submit: http://submit.genome.org
Muin J. Khoury @muinjkhoury.bsky.social Physician, epidemiologist, medical geneticist, public health professional.
https://www.linkedin.com/in/muin-j-khoury-3340102a?utm_source=share&utm_campaign=share_via&utm_content=profile&utm_medium=ios_app
Liz Worthey @lizworthey.bsky.social #AssociateProf #CompBio #Omics #WomenInScience #LGBTQ+Ally #Scottish #PrecisionMedicine #HealthCare #MDx #ME/CFS #RareDisease #Informatics #SciFiNerd #LongCovidAffected
sites.uab.edu/cgds/ she/her
American Society of Human Genetics (ASHG) @geneticssociety.bsky.social 🧬Founded in 1948, the American Society of Human Genetics (ASHG) is the primary professional membership organization for #humangenetics specialists worldwide.
www.ashg.org
UCSC Genome Browser @genomebrowser.bsky.social The UCSC Genome Browser is a public, freely available, open-source web-based graphical viewer for displaying genome sequences and their annotations.
Alex Hoischen @ahoischen.bsky.social Genomic technologies: WES/WGS, long-read sequencing, optical genome mapping, somatic mutations;
Immuno-genomics: rare diseases; immunodeficiencies; inborn errors of immunity; clonal hematopoiesis
https://shorturl.at/MxQ7O
https://www.immuno-genomics.com
Agnes Caruso @agnescaruso.bsky.social Geneticist, product manager & photographer #humangenetics #moleculardx #womenshealth #socialmedia. Opinions stated are my own. https://www.linkedin.com/in/agnieszkacaruso/
Teodora Barbarii @teodorabarbarii.bsky.social Medical geneticist studying rare neurodevelopmental and neurogenetic disorders. PhD student at University of Manchester
Global Alliance for Genomics and Health @ga4gh.org GA4GH sets standards and frames policies to expand genomic and health data use within a human rights framework.
https://www.ga4gh.org
UK Biobank @ukbiobank.ac.uk A large-scale biomedical database and research resource, that can be accessed globally by approved researchers, to enable scientific discoveries.
🔗 https://www.ukbiobank.ac.uk/
Genomics England @genomicsengland.bsky.social We’re working to enable faster and deeper genomic research, to bring genomic healthcare to all who need it.
James Fasham @jamesfasham.bsky.social 🧬👨⚕️Academic Consultant in Clinical Genetics 💬 ESHG Social media chair. 🤖 @DiseaseGenes bot creator #Genetics #Genomics #RareDisease
Aleena M Stolworthy @aleenamolbio.bsky.social 🔬Ensembl training
🇬🇧 EMBL-EBI Cambridge UK
PhD in molecular biology
ESHG Social Media Chair
Joris Veltman @jorisveltman.bsky.social Happy European human geneticist enjoying life in the United Kingdom. Love everything genomics, even married a genomicist..;)
Genetics Society UK @gensocuk.bsky.social The Genetics Society was founded by William Bateson & Edith Rebecca Saunders in 1919 & is one of the oldest learned societies devoted to Genetics in the world.
Albert Vilella, PhD. @albertvilella.bsky.social Bioinformatics Scientist / Next Generation Sequencing, Single Cell and Spatial Biology, Next Generation Proteomics, Liquid Biopsy, SynBio, AI/ML in biotech // http://albertvilella.substack.com
Caroline Wright @carolinefwright.bsky.social Academic research scientist in human genetics and genomic medicine; pianist & composer; hiker & outdoors enthusiast. 
Nicky Whiffin @nickywhiffin.bsky.social Associate Professor @ Big Data Institute, University of Oxford
2024 Lister Institute Fellow
genomics | rare disease | gene regulation | genetic therapies
https://rarediseasegenomics.org/
(field) hockey player | cyclist | hiker
Ensembl @ensembl.org The Ensembl project seeks to enable genomic science by providing high-quality, integrated annotation.
EMBL-EBI @ebi.embl.org EMBL's European Bioinformatics Institute (EMBL-EBI) provides open biological data resources and tools, and performs basic research in computational biology. https://www.ebi.ac.uk/
@deciphergenomics.bsky.social @deciphergenomics.bsky.social 
Atlas of Variant Effects Alliance @varianteffect.bsky.social Advancing the promise of the Human Genome Project by interpreting the landscape of human genetic variation.
https://www.varianteffect.org
https://www.linkedin.com/company/atlas-of-variant-effects-alliance
#AtlasOfVariantEffects
Christel Depienne @christeldepienne.bsky.social Molecular geneticist | Neurogenetics | repeat expansions | chromosome X | snRNAs | and more
IMPC - International Mouse Phenotyping Consortium @impc-phenotypes.bsky.social The International Mouse Phenotyping Consortium (IMPC) is an international programme to find the function of every protein-coding gene in the mouse genome.
ESHG-Young @eshgyoung.bsky.social https://linktr.ee/ESHGYoung
@eshg.bsky.social
EGA archive @egaarchive.bsky.social The European Genome-phenome Archive (EGA) is a service for permanent archiving and sharing of all types of personally identifiable genetic and phenotypic data resulting from research projects.
https://ega-archive.org/
Jess Ewald @ewaldlab.org Computational biologist using omics data (imaging, gene expression) to investigate the impacts of environmental contaminants on biological systems
Group Leader @EMBL-EBI (www.ewaldlab.org)
Wellcome Sanger Institute @sangerinstitute.bsky.social We are a world leader in genomics research. We apply and explore genomic technologies to advance the understanding of biology and improve health 🧬
https://www.sanger.ac.uk/
Nature Genetics @natgenet.nature.com Nature Genetics is a monthly journal publishing high impact research in genetics and genomics. Part of @natureportfolio.bsky.social
Repost/like=interesting/relevant, not necessarily endorsement.
Doug Fowler @dougfowler.bsky.social Genomics, technology and human genetics @University of Washington. Working to create an atlas of variant effects and resolve VUS.
European Society of Human Genetics @eshg.bsky.social The ESHG is a non-profit organization. Its aims are to promote research in basic and applied human and medical genetics, to ensure high standards in clinical practice and to facilitate contacts between all persons who share these aims.
Andrea Ganna @andganna.bsky.social Associate Prof in health data science @HiLIFE_helsinki @FIMM_UH - MGH/Harvard - Playing with all kind of data - http://dsgelab.org
Hilary Martin @hilarycmartin.bsky.social Group Leader in Human Genetics, Wellcome Sanger Institute
Zoltán Kutalik @zkutalik.bsky.social Statistical Geneticist, Group leader at University of Lausanne/Unisante, father, climber, runner
Nelson Martins @nelsonm1224.bsky.social MSCA Doctoral Candidate | @progret2024.bsky.social | debaerelab.com | UGent | CMGG 🇧🇪
Studying Retinal Dystrophies and 3D Genome 👁️🌀
@eshgyoung.bsky.social
Alumni from Carla Oliveira Lab (i3S,🇵🇹), Caldas Lab (CRUK CI, 🇬🇧) & Ana-Teresa Maia Lab (UAlg, 🇵🇹)
Open Targets @opentargets.org Public-private partnership using human genetics and genomics data for systematic drug target identification and prioritisation. http://blog.opentargets.org
FinnGen @finngen.bsky.social A forerunner in the global landscape of genomics research projects. The study has collected and analysed genome and health data from >500,000 Finnish biobank donors to understand the genetic basis of diseases.
www.finngen.fi
Gosia Trynka @gosiatrynka.bsky.social Science Director of OpenTargets and Group Leader at Wellcome Sanger Institute
Genetics, immunology, drug discovery
Outdoors, cats, dogs and all animals
Views are my own
SciLifeLab @scilifelab.se 🇸🇪 Sweden's national center for molecular biosciences
👩🔬 Infrastructure with unique technologies and expertise
👥 Research community
🥼 Life science 🌱
💻 Often data-driven
https://www.scilifelab.se/
https://www.linkedin.com/company/scilifelab/
@franmartinezgr.bsky.social @franmartinezgr.bsky.social Geneticist, PhD, ErCLG 🧬
https://www.linkedin.com/in/francisco-martinez-07484822
Sarah Vergult @svergult.bsky.social PI of the Functional Genomics lab (https://fungenlab-ugent.be/) at Ghent University.
Elucidating the genetics of neurodevelopmental disorders.
Special interest in the role of the non-coding genome during neurodevelopment.
European Journal of Human Genetics @ejhg-journal.bsky.social The official journal of the European Society of Human Genetics, providing insights into human genetics, genomics, molecular, clinical, and cytogenetics research
https://www.nature.com/ejhg/
Vicente Yepez @vyepez.bsky.social 
Lot Snijders Blok @lotsb.bsky.social geneticist - scientist - cyclist
@jellingford1.bsky.social @jellingford1.bsky.social 
Quentin Sabbagh @q-sa2b.bsky.social MD in Medical Genetics 🇫🇷 • PhD Candidate in Genomics of Rare Diseases at Radboudumc (Hoischen's lab) 🇳🇱 | Leveraging translational genomics to diagnose genetically unsolved rare diseases 🧬
@alexblakes.bsky.social @alexblakes.bsky.social 
Stefan Barakat @stefanbarakat.bsky.social Associate Professor at Erasmus MC. MD, PhD, Clinical Geneticist, interested in gene regulation and the non-coding genome, bridging research and patient care
Mohamed Wafik @mo-wafik.bsky.social 🧬 Clinical Geneticist in London | Paediatric focus | Innovating patient care through genomics 🇬🇧 🇪🇬🔬