Human Genome Organisation @humangenomeorg.bsky.social The Human Genome Organisation (HUGO) is an international organisation of scientists involved in human genetic and genomic research. The primary ethos of HUGO is to promote and sustain international collaboration in the field of human genetics.
Broad Institute @broadinstitute.org A multidisciplinary community of researchers with the mission to better understand the roots of disease and narrow the gap between new biological insights and impact for patients. Broadinstitute.org
AGBT @agbt.bsky.social AGBT is the world-renowned not-for-profit provider of three prestigious conference and networking events for the leading luminaries and change-makers of the life sciences and global biotech community.
Doug Fowler @dougfowler.bsky.social Genomics, technology and human genetics @University of Washington. Working to create an atlas of variant effects and resolve VUS.
Eimear Kenny @eimearekenny.bsky.social Genomics, Computer Science, Medicine. Professor @ Mount Sinai in NYC. Director of Institute for Genomic Health. 🇮🇪 VMO
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
Genetics in Medicine @gimjournal.bsky.social Genetics in Medicine, an official journal of @theacmg.bsky.social
Site use policy: http://bit.ly/gimconduct. Cover image by http://istockphoto.com user fanjianhua
Jordan Smoller @jorsmo.bsky.social Psychiatry, Genetics, Epidemiology, Precision Medicine. Author of The Other Side of Normal. 3% Neanderthal.
Aimee Dudley @aimeedudley.bsky.social Using the Awesome Power of Yeast Genetics to solve hard problems.
euanashley @euanashley.bsky.social chair of stanford dept of medicine
author of the genome odyssey
founder of biotechnology companies
Alex Wagner @alexphd.bsky.social Husband, Father, Brother.
Principial Investigator for the Institute for Genomic Medicine at Nationwide Children's Hospital.
Director of VICC (cancervariants.org), Variation Representation lead of the GA4GH. NHGRI Genomic Innovator. I 👍 open science.
Moez Dawood @moezdawood.bsky.social 
Casey Gifford @caseygifford.bsky.social Assistant Professor @ Stanford
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
Michael Duyzend @genmyst.bsky.social Student of life! Genome explorer
Stephen Montgomery @sbmontgom.bsky.social Stephen Montgomery. Stanford Medicine Professor of Pathology, Genetics, Biomedical Data Science and, by courtesy, Computer Science.
Sporadic on social media.
Kiran V Garimella @kvg.bsky.social Director of Computational Biology, Data Sciences Platform at the Broad Institute.
Sam Baxter @sambaxter.bsky.social 
Matthew Wheeler 🦋 @mwheelermd.bsky.social Physician-scientist @stanford medicine, AHFTC, genomics of rare disease, cardiovascular genetics, exercise multiomics, cardiomyopathy, novel therapeutics and data. #motrpac #UDN #Gregor #CFDE . Husband, kids and cats, mountains and snow. Resist hate.
Vijay Ganesh @vijayganesh.bsky.social MD, PhD; Neuromuscular Medicine at Brigham and Women’s Hospital; Rare disease research at Broad Institute
Human Pangenome Reference Consortium @humanpangenome.bsky.social Diverse Human References Drive Genomic Discoveries for Everyone
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/
Fritz Sedlazeck @sedlazeck.bsky.social 
Anshul Kundaje @anshulkundaje.bsky.social Genomics, Machine Learning, Statistics, Big Data and Football (Soccer, GGMU)
Benedict Paten @benedictpaten.bsky.social Professor of Biomolecular Engineering at the University of California, Santa Cruz; Associate Director, UC Santa Cruz Genomics Institute
Erik Garrison @thinks.lol computational biologist: genomes, evolution, DNA
Mike Schatz @mikeschatz.bsky.social Bloomberg Distinguished Professor at Johns Hopkins University. http://schatz-lab.org
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/
Eric Topol @erictopol.bsky.social physician-scientist, author, editor
https://www.scripps.edu/faculty/topol/
Ground Truths https://erictopol.substack.com
SUPER AGERS https://www.simonandschuster.com/books/Super-Agers/Eric-Topol/9781668067666
Brian Krueger, PhD @h2so4hurts.bsky.social Scientific strategist | Storyteller | Genomics, Lab diagnostic and high throughput automation | Coder | Comments are my own | Omic.ly
Elinor Karlsson @elinork.bsky.social Scientist & artist. Prof at UMass Chan Med School & Broad Institute. Rice U alum. Founder of Zoonomia & DarwinsArk.org. Wants your dog’s DNA. And your cat’s! 🇸🇪🇳🇿🇺🇸
Karen Miga @khmiga.bsky.social Associate Professor of Biomolecular Engineering at the University of California, Santa Cruz; Associate Director, UC Santa Cruz Genomics Institute
Manolis Kellis @manoliskellis.bsky.social 
Lior Pachter @lpachter.bsky.social Bren Professor of Computational Biology @Caltech.edu. Blog at http://liorpachter.wordpress.com. Posts represent my views, not my employer's. #methodsmatter
Tuuli Lappalainen @tuuliel.bsky.social Professor at KTH, NY Genome Center, SciLifeLab, working on functional genomics and human genetics.
bioRxiv Genomics @biorxiv-genomic.bsky.social 
Zornitza Stark @zornitza.bsky.social Clinical Geneticist, VCGS. Professor, University of Melbourne. Rare disease genomics. 🧬🇦🇺
Cas Simons @cassimons.bsky.social Rare disease program lead, Centre for Population Genomics.
🇦🇺🇳🇿
Hilary Martin @hilarycmartin.bsky.social Group Leader in Human Genetics, Wellcome Sanger Institute
Hannah Long @hannahlong.bsky.social Group Leader @mrc_hgu investigating gene regulation in development & human disease
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
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/
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
Eva D'haene @eedhaene.bsky.social Nordic EMBL Postdoctoral Fellow @ Kilpinen lab, University of Helsinki | Chromatin dynamics, gene regulation, structural variation | neurodev, retina, space!
Jennifer Posey @poseypod.bsky.social Physician-scientist, Adult genetics, Human genetics research, Baylor College of Medicine. Thoughts expressed = my own.
Christel Depienne @christeldepienne.bsky.social Molecular geneticist | Neurogenetics | repeat expansions | chromosome X | snRNAs | and more
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.
Caroline Wright @carolinefwright.bsky.social Academic research scientist in human genetics and genomic medicine; pianist & composer; hiker & outdoors enthusiast. 
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
Emilie Wigdor @emiliewigdor.bsky.social Postdoc at Oxford in neurogenetics 🧬 Previously PhD at Sanger/Cambridge, ACB at Broad. Harvard cognitive neuro 🧠
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
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
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. 
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
Rachel @rachelbuc.bsky.social Cardiovascular genetic scientist, crafter, mum.
Passionate about opening up cardiovascular research to more people - @thehearthive.bsky.social. Has too many hobbies. London, UK
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.
Heather Mefford, MD, PhD @hcmefford.bsky.social Physician scientist @ St. Jude
(neuro)genetics | genomics
epilepsy | rare disease | precision medicine
Matt Hurles @mehurles.bsky.social Director, Wellcome Sanger Institute. Decipherer of developmental disorders. Co-founder Congenica. Dad, husband, cyclist, gardener. Views own.
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.
Sharon Plon @seplon.bsky.social Geneticist, researcher and educator 
Alex Geary @alextremophile.bsky.social Postdoctoral Bioinformaticial in the Computational Rare Disease Genomics group (Nicky Whiffin). univ. Oxford 🧬💻
Loves Evolution, regulation, cheese and cats. She/Her
Elston D’Souza @elstondsouza.com DPhil Student and RA at the CRDG Lab, University of Oxford
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.
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
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 🐦🦣☁️🧵
Lea Starita @leastarita.bsky.social Genome Scientist at UW
Jessica Chong @jxchong.bsky.social Associate Professor. UW Center for Rare Disease Research, @MyGene2, Deputy Editor of @HGGAdvances. #raredisease genetics. CovidWA data
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)
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
James Pirruccello 🌉🇺🇸 @jamespirruccello.com AI slop enjoyer
Wendy Bickmore @wbickmor.bsky.social Scientist at University of Edinburgh. Director of MRC Human Genetics Unit but posting in my own capacity.
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.
John Greally @greally.bsky.social Using genomic information to improve medicine
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
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
@turnaray.bsky.social @turnaray.bsky.social 
Buffer @buffer.com The social media management platform for scheduling, publishing & analytics across every major network. Plan your content calendar in one place. This account is managed by real humans. 💙
⬇️ buffer.com/bluesky
Stephen Turner @stephenturner.us Field guide. Quartermaster. Associate Professor and Research Dean at UVA School of Data Science. Views my own.
Web: https://datascience.virginia.edu/people/stephen-turner
Newsletter: https://blog.stephenturner.us
Charlie Warzel @cwarzel.bsky.social Writer. Host of Galaxy Brain, the podcast. Never bet against the dumbest outcome. @cwarzel.92 on signal if you have a tip.
Mike Inouye @mikeinouye.bsky.social Computational biologist. Geriatric Millennial. Professor, University of Cambridge. British | Australian | American.
www.inouyelab.org | Cambridge, UK
@deannachurch.bsky.social @deannachurch.bsky.social Dogs, Science and hopefully a little humor 
Ed Yong is offline @edyong209.bsky.social Writer, journalist. Science, health. Pandemics, animals. Birder, photographer. Many words, some awards. AN IMMENSE WORLD, I CONTAIN MULTITUDES. Married to Liz Neeley, parent to Typo. he/him
📷 Canon R6mkii + RF 800mm
Edyong.me
Anne O'Donnell-Luria @anneotation.bsky.social Clinical geneticist and rare disease researcher at the Broad Institute and Boston Children's Hospital
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.
Kaitlin Samocha @ksamocha.bsky.social Assistant Investigator @ MGH / Broad / HMS. Focus on human genomics and modeling rare variation. She/her
Genome Aggregation Database (gnomAD) @gnomad-project.bsky.social The world's largest open resource of human genetic variation. For help please use http://broad.io/gnomad_forum; feature requests/bug reports to http://broad.io/gnomad_github