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
@mspielmann.bsky.social @mspielmann.bsky.social 
Human Pangenome Reference Consortium @humanpangenome.bsky.social Diverse Human References Drive Genomic Discoveries for Everyone
@umcgroningen.bsky.social @umcgroningen.bsky.social 
Institute of Molecular Genetics @imgprague.bsky.social Public scientific institution, part of the Czech Academy of Sciences. Research in molecular, structure and cell biology, immunology, genomics and bioinformatics.
Cold Spring Harbor Laboratory @cshlnews.bsky.social Non-profit research and educational institution at the forefront of molecular biology, cancer, neuroscience, plant biology, and genetics.
https://www.cshl.edu/
Trends in Genetics @cp-trendsgenetics.bsky.social A reviews journal from Cell Press that fosters an appreciation for advances being made on all fronts of genetic research.
Editor: Maria Smit
https://www.cell.com/trends/genetics/home
GREGoR Consortium @gregor-research.bsky.social The GREGoR Consortium (Genomics Research to Elucidate the Genetics of Rare diseases) seeks to develop and apply approaches to discover the cause of currently unexplained rare genetic disorders.
https://gregorconsortium.org/
Department of Genetics, University of Cambridge @geneticscam.bsky.social The Department of Genetics, @uniofcam.bsky.social : One of the few genetics departments in the UK.
https://linktr.ee/camgenetics
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.
NEJM AI @ai.nejm.org NEJM AI, a new monthly journal from the publisher of @nejm.org, explores the cutting-edge applications of artificial intelligence and machine learning in clinical medicine. Online at ai.nejm.org.
Nature @nature.com Research, news, and commentary from Nature, the international science journal. For daily science news, get Nature Briefing: https://go.nature.com/get-Nature-Briefing
Aarón D. Ramírez-Sánchez @aarondrs.bsky.social Postdoc | Genetics Department, UMCG, Groningen. Exploring genetic elements linked to Multiple Sclerosis & Celiac Disease.
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/
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.
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
Radboud Institute for Molecular Life Science @rimls.bsky.social RIMLS is part of the Faculty of Science, Radboud University Nijmegen.
Anthony Beckhouse @antobeck.bsky.social Genomics | Science | Technology | Biotech | Nonsense | All views are my own and not those of my employer- who is not on 🦋 yet.
Particular soft spot for single cell and spatial transcriptomics and genome biology.
Max Planck Institute of Molecular Cell Biology and Genetics @mpi-cbg.de How do cells form tissues? Our research program spans the scales from molecules to organisms. News from the Max Planck Institute of Molecular Cell Biology and Genetics (MPI-CBG) in Dresden, Germany. Impressum: https://www.mpi-cbg.de/impressum
@deciphergenomics.bsky.social @deciphergenomics.bsky.social 
@newyorkcrd.bsky.social @newyorkcrd.bsky.social 
Ioannis Vlachos @ioavlachos.bsky.social Director of Spatial Technologies & Bioinformatics.
BIDMC / HarvardMed / Broad
Tatiane Yanes @tatyanes.bsky.social Genetic counsellor at Queensland Children’s Hospital and Research Fellow at Integrating Genomics into Medicine Group, The University of Queensland; she/her 🇦🇺🇧🇷
#genechat
https://www.igmgenomics.com
NIHR Biomedical Research Centre: Oxford @oxfordbrc.bsky.social The NIHR Biomedical Research Centre: Oxford is a collaboration between the University of Oxford and Oxford University Hospitals NHS Foundation Trust to support medical research.
Ewan Birney @ewanbirney.bsky.social Director of EMBL-EBI. I have an insatiable love of biology. Consultant to ONT and Cantata (Dovetail)
Oxford Nanopore @nanoporetech.com 🌍Direct DNA/RNA analysis for anyone, anywhere
🧬Short to ultra-long reads in real-time for rapid insights
🔬Products for research use only
JAMA @jama.com JAMA is an international peer-reviewed general medical journal and a member of the JAMA Network family of journals.
🌐 JAMA.com
Australian Genomics @ausgenomics.bsky.social A national collaboration supporting the translation of genomic research into clinical practice.
Marion Aubert Mucca @marion-mam.bsky.social Clinical Geneticist in Toulouse 🧬
Passionate about rare diseases and skeletal disorders 🔥
Anna Murray @anna123.bsky.social Professor of Human Genetics, interested in reproductive genomics, women’s health, menopause.
Anneke Lucassen @alucassen.bsky.social Prof Genomic Medicine, UoOxford
Director Centre for Personalised Medicine https://cpm.ox.ac.uk/
Interested in how we bring together ethics, social, molecular and clinical sciences to make sense of genomics.
@annekeluc at the other place
Kirsten Boggs @kirnigc.bsky.social Senior Genetic Counsellor for Australian Genomics with special interest in Reproductive Carrier Screening and genomic NBS. Co-Chair of GCR Connect. Gadigal land. She/her. Views are my own
Peter van Tintelen @jpvantintelen.bsky.social clinical geneticist, Department of Genetics UMC Utrecht, the Netherlands. Professor of clinical genetics/cardiogenetics
https://research.umcutrecht.nl/researchers/peter-van-tintelen/
klinisch geneticus, hoogleraar klinische genetica/cardiogenetica
🇳🇱♿️
Harm-Jan Westra @harmjanwestra.bsky.social Senior postdoctoral researcher at the Department of Genetics, UMCG, Groningen, The Netherlands.
bioRxiv Bioinfo @biorxiv-bioinfo.bsky.social 
Aaron Quinlan (he/him) @aaronquinlan.bsky.social Origins and consequences of genome mutation; software for genomic discovery.
Prof. and Chair of Human Genetics at U. of Utah.
https://www.genetics.utah.edu/
http://quinlanlab.org
John Greally @greally.bsky.social Using genomic information to improve medicine
Cathy Abbott @cathyabbott.bsky.social Professor, eEF1A2/neurological disorders. Mostly talks about research, EDI (tries hard to be a good ally) but sometimes veers off into crafts and photos of Scotland. She/her, views own.
Wendy Bickmore @wbickmor.bsky.social Scientist at University of Edinburgh. Director of MRC Human Genetics Unit but posting in my own capacity.
Kaitlin Samocha @ksamocha.bsky.social Assistant Investigator @ MGH / Broad / HMS. Focus on human genomics and modeling rare variation. She/her
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
Jessica Chong @jxchong.bsky.social Associate Professor. UW Center for Rare Disease Research, @MyGene2, Deputy Editor of @HGGAdvances. #raredisease genetics. CovidWA data
Lea Starita @leastarita.bsky.social Genome Scientist at UW
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 🐦🦣☁️🧵
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
Anne O'Donnell-Luria @anneotation.bsky.social Clinical geneticist and rare disease researcher at the Broad Institute and Boston Children's Hospital
Heidi Rehm @heidirehm.bsky.social Genomic medicine researcher; chief genomics officer at MGH; clinical lab director at @broadinstitute
Rob Beagrie @rbeagrie.bsky.social Group leader and Wellcome Sir Henry Dale Fellow based at the Centre for Human Genetics at Oxford University. Interested in genomics, single-cell technologies, 3D DNA folding and chromatin disruption in human disease. He/him.
Elston D’Souza @elstondsouza.com DPhil Student and RA at the CRDG Lab, University of Oxford
Sharon Plon @seplon.bsky.social Geneticist, researcher and educator 
Helena Kilpinen @hkilpinen.bsky.social Associate Professor in Human Genetics and Genomic Medicine @HiLIFE_helsinki, @FIMM_UH, @UH_Neuro and Faculty of Medicine. Stem cells, single cells, genomics, and neurodevelopment.
Matt Hurles @mehurles.bsky.social Director, Wellcome Sanger Institute. Decipherer of developmental disorders. Co-founder Congenica. Dad, husband, cyclist, gardener. Views own.
Heather Mefford, MD, PhD @hcmefford.bsky.social Physician scientist @ St. Jude
(neuro)genetics | genomics
epilepsy | rare disease | precision medicine
Philippa May @philippamay.bsky.social Consultant Clinical Scientist in Genomics. Talk to me about paediatric cancer, cardiovascular and respiratory disease, telomeres.....
Veggie Londoner with a fondness for Ireland, halloumi, chocolate orange Twirls and wildlife. Easily startled.
James Ware @jamesware.bsky.social Clinician Scientist. Cardiovascular genetics, genomics in healthcare, inherited cardiac conditions, open science, patient participation. He/him.
https://profiles.imperial.ac.uk/j.ware
Dr Jenny Lord @drjennylord.bsky.social Lecturer in Systems Biology at the University of Sheffield. Interested in bioinformatics, RNA, splicing, big data, rare disease diagnostics and neuroscience. Also dogs. 
Anne Goriely @agoriely.bsky.social Human genetics, rare disease and de novo variant detection | selfish selection | mosaicism | cell competition | paternal age effects | spermatogenesis | testis
@University of Oxford @MRC- WIMM
Kartik Chundru @chundru.bsky.social Postdoc at University of Exeter 🇮🇪🇮🇳🇬🇧 Statistical/Computational analyses using any NGS-based data
Formerly at Sanger institute working on recessive developmental disorders in DDD
Emilie Wigdor @emiliewigdor.bsky.social Postdoc at Oxford in neurogenetics 🧬 Previously PhD at Sanger/Cambridge, ACB at Broad. Harvard cognitive neuro 🧠
Hope Tanudisastro @htanudisastro.bsky.social MD-PhD candidate at the University of Sydney & Garvan Institute.
Studying tandem repeats in single-cell contexts w/ @dgmacarthur.bsky.social
Caroline Wright @carolinefwright.bsky.social Academic research scientist in human genetics and genomic medicine; pianist & composer; hiker & outdoors enthusiast. 
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.
Christel Depienne @christeldepienne.bsky.social Molecular geneticist | Neurogenetics | repeat expansions | chromosome X | snRNAs | and more
Jennifer Posey @poseypod.bsky.social Physician-scientist, Adult genetics, Human genetics research, Baylor College of Medicine. Thoughts expressed = my own.
Eva D'haene @eedhaene.bsky.social Nordic EMBL Postdoctoral Fellow @ Kilpinen lab, University of Helsinki | Chromatin dynamics, gene regulation, structural variation | neurodev, retina, space!
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
Gemma Carvill @gc4gc.bsky.social rare disease neurogeneticist | epilepsy | epigenetics | iPSCs | mentor & genetics MedEd | here for the science, lab fun & occasionally my tiny hooman
https://sites.northwestern.edu/carvilllab/
Scott McGrath @smcgrath.phd Biomedical Informatics PhD • CITRIS Health @UC Berkeley • FAMIA • Focusing on Informatics and AI in medicine • Linfield U. Grad • Missoula MT
https://smcgrath.phd
Hannah Long @hannahlong.bsky.social Group Leader @mrc_hgu investigating gene regulation in development & human disease
Hilary Martin @hilarycmartin.bsky.social Group Leader in Human Genetics, Wellcome Sanger Institute
Cas Simons @cassimons.bsky.social Rare disease program lead, Centre for Population Genomics.
🇦🇺🇳🇿
Zornitza Stark @zornitza.bsky.social Clinical Geneticist, VCGS. Professor, University of Melbourne. Rare disease genomics. 🧬🇦🇺
Jonathan Sebat @sebatlab.bsky.social Psychiatric genetics, complex trait genetics, genome sequencing, rare variants are my jam
Jonathan Frazer @jonnyfrazer.bsky.social Probabilistic machine learning to address questions in evolution and health #EvolutionaryMedicine. PI at the Centre for Genomic Regulation, co-leading a group with Mafalda Dias. Previously Harvard.
Danny Miller, MD, PhD @danrdanny.bsky.social CODA. Dad. Interested in genetics, long-read sequencing, and ultramarathon running. Assistant Professor at University of Washington. The command line is my happy place. https://millerlaboratory.com
Richard Scott @rich-genomics.bsky.social CEO @GenomicsEngland, Honorary Consultant and Associate Professor in Clinical Genetics @GOSH. Still just about a runner
Joris Veltman @jorisveltman.bsky.social Happy European human geneticist enjoying life in the United Kingdom. Love everything genomics, even married a genomicist..;)
Polona Le Quesne Stabej @polona.bsky.social DVM PhD | Researcher at the University of Auckland | Genomics, variant interpretation | Rare diseases | Cancer, Molecular Tumour Boards | Inherited cardiac diseases | 🧬
Jacob Vorstman @jacobvorstman.bsky.social Professor of Psychiatry at The Hospital for Sick Children / University of Toronto.
Editor in Chief of the Journal of Neurodevelopmental Disorders.
Neurodevelopment, (Child) Psychiatry, Genetics, The Music of Life,
Eloise Beer Wells @eloisewells.bsky.social Wellcome PhD student @ Oxford 🧬
Ruby Dawes @ruebenadawes.bsky.social Sydney girl, Fulbright recipient 2020-2021 with Monkol Lek. PhD Kids Research Sydney 2022, now postdoc with @nickywhiffin.bsky.social at BDI Oxford. Splicing & smORFs!
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
Dr. Ina Klockner🧬👩🔬🔬 @inaklockner.bsky.social Scientist | former Postdoc at The University of North Carolina at Chapel Hill (USA) | now at UKM Münster (Germany) | Gene Therapy & Post-Transcriptional Gene Regulation & Molecular Genetics | she/her | 🇩🇪> 🇺🇲>🇩🇪
MRC Laboratory of Molecular Biology @mrclmb.ac.uk The MRC Laboratory of Molecular Biology aims to understand biological processes at the molecular level to help tackle human health problems and disease.
Justin J.J. van der Hooft @jjjvanderhooft.bsky.social Assistant Professor in Computational Metabolomics. Fascinated by the diverse chemistry of nature. Strives for Community-based solutions and Open Science.
NHS East Genomics @eastgenomics.bsky.social High quality genomic medicine for cancer and rare condition patients in the East Midlands and East of England. We are the East Genomic Laboratory Hub (GLH) + the East Genomic Medicine Service Alliance (GMSA) http://linktr.ee/east_genomics
Life Sciences Switzerland (LS2) @lifesciswitzerland.bsky.social The largest Life Sciences Society and Network in Switzerland
Nature Cell Biology @natcellbio.nature.com A journal dedicated to publishing the latest advances across all areas of cell biology. Part of @natureportfolio.nature.com
nature.com/ncb/index.html
Edinburgh Genomics @edgenome.bsky.social The Genomics & Bioinformatics Core Facility at the University of Edinburgh
https://genomics.ed.ac.uk/
Javier Santoyo @jsantoyo.bsky.social Genomics & Bioinformatics #Omics #NGS #LongReads 🧪🧬 🖥️
Opinions my own. He/Him
LinkedIn: https://www.linkedin.com/in/javiersantoyolopez/
Charlie Johnson @biomath.bsky.social Director, Institute Genomics and Bioinformatics Service, Texas A&M AgriLife. Supporting genomic research for amazing scientists around the world. "How can we help you?" Email us at TxGen@ag.tamu.edu for more information.
https://linktr.ee/charliejohnson
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
Catharine.Aquino @catharineaquino.bsky.social Genomics plus anything else I find interesting. 🇨🇭🇵🇭 Opinions are my own and do not represent my employer.
Jonathan Pritchard @jkpritch.bsky.social My lab at Stanford studies human population genetics and complex traits.
Max Planck Institute for Molecular Genetics @molgen.mpg.de The Max Planck Institute for Molecular Genetics in Berlin. We want to understand how the genome works and how it is regulated, especially during embryonic development & disease. Imprint: https://www.molgen.mpg.de/impressum
Doug Fowler @dougfowler.bsky.social Genomics, technology and human genetics @University of Washington. Working to create an atlas of variant effects and resolve VUS.
Tuuli Lappalainen @tuuliel.bsky.social Professor at KTH, NY Genome Center, SciLifeLab, working on functional genomics and human genetics.
Nils Homer @nilshomer.com I write software for Biologists. Founder @fulcrumgenomics, Bioinformatician, Computer Scientist, Coder, Father of 2xGirls. Opinions are my own.
Harriet Dashnow @hdashnow.bsky.social Asst. Prof, CU Biomedical Informatics.
#RareDisease #Genomics #STRs #bioinformatics #WomenInSTEM. Parent. Aussie. she/her
Views my own.
https://dashnowlab.org/
Img by familydestinationsguide (CC-BY)
Bioinformatics Open Source Conference (BOSC) @bosc.bsky.social Yearly Bioinformatics Open Source Conference since 2000, run by @OpenBio.
BOSC 2026 will be July 14-15, 2026, as part of ISMB 2026
(BOSC 2025 was July 21-22, 2025, in Liverpool, UK as part of ISMB/ECCB 2025)
https://www.open-bio.org/events/bosc/