Unique @uniquecharity.bsky.social Unique supports & informs anyone born w/a rare chromosome or gene disorder, their families & carers. Eurordis Patient Organisation Award winner. http://rarechromo.org
Lara Muffley @muffley.bsky.social Director of Program Operations (Variant Effects Portfolio) CMAP, CAVA and the Atlas of Variant Effects Alliance | she/her 🏳️🌈
https://fowlerlab.gs.washington.edu/people
https://brotmanbaty.org/research/atlas-of-variant-effects 
James Fasham @jamesfasham.bsky.social 🧬👨⚕️Academic Consultant in Clinical Genetics 💬 ESHG Social media chair. 🤖 @DiseaseGenes bot creator #Genetics #Genomics #RareDisease
North East & Yorkshire Genomics @neygenomics.bsky.social Embedding Genomics into routine clinical care, delivering faster & more accurate diagnoses, personalised treatment & prevention.
Web: https://ney-genomics.org.uk
Podcast: https://ney-genomics.org.uk/about-genomics/podcast/ 
Muzz Haniffa @mhaniffa.bsky.social Clinician scientist, passionate about #immunology, #genomics, #single-cell and #spatial omics, #development #organoid #dermatology. Mother, food enthusiast and film buff
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/
Ian Simpson @tisimpson.bsky.social Professor of Biomedical Informatics @InfAtEd, Dir. @AI4BI_CDT - Bioinformatics, Machine Learning, BioNLP, Genomics, Genetic Disease
Exeter Rare Disease @rdexeter.bsky.social Prof Emma Baple and team at @exeter.ac.uk defining the genomic and molecular basis of rare diseases
https://wohproject.com/
Michael Yates @tm-yates.bsky.social Clinical Genetics physician in West of Scotland and informatics/ML researcher at University of Edinburgh
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
Nicole Lake @nicolelake.bsky.social Enthusiastic about human & mitochondrial genomics 🧬 Assistant Professor @YaleGenetics. She/her.
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
Diana Lemos @diana57lemos.bsky.social 
Wellcome Connecting Science Learning and Training @eventswcs.bsky.social Part of Wellcome Sanger Institute and funded by Wellcome, we develop and deliver genomics-focused learning and training. Our events support scientific careers, as well as the equitable application of genomics into research and healthcare across the globe. 
G2P @gene2phenotype.bsky.social G2P (https://www.ebi.ac.uk/gene2phenotype/) is managed by EMBL’s European Bioinformatics Institute (EMBL-EBI)
Joe Marsh @jmarshlab.bsky.social 
Mihaly Badonyi @mbadonyi.bsky.social postdoc @mpi-cbg.de
computational biology | disease genetics
Sarah Wynn @sarahlwynn.bsky.social CEO Unique (Rare Chromosome & Gene Disorders) 🧬
Shane McKee @shaneir.bsky.social Genetics/Genomics doc, Nazareth Hospital biker, developing solutions for #RareDisease & Digital Healthcare on a #Psion Series 3a. Want to see peace in Northern Ireland, Israel-Palestine & Planet Earth. One of those Happy Lundys. https://shanemuk.github.io
Mallory Freeberg @malloryfreeberg.bsky.social 🧬 Human Data Sharing Expert
🌱 Community & Collaboration Builder
👩💻 Bioinformatics & Metadata Enthusiast
🙌 Open Science Advocate
🇺🇸 in 🇬🇧
Ensembl @ensembl.org The Ensembl project seeks to enable genomic science by providing high-quality, integrated annotation.
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
Gencode Genes @gencodegenes.bsky.social Human And Vertebrate Analysis aNd Annotation (HAVANA) team, part of the Ensembl group at the European Bioinformatics Institute.
Ewan Birney @ewanbirney.bsky.social Interim Director General EMBL. I have an insatiable love of biology. Consultant to ONT and Cantata (Dovetail)
@helenvfirth.bsky.social @helenvfirth.bsky.social 
Heidi Rehm @heidirehm.bsky.social Genomic medicine researcher; chief genomics officer at MGH; clinical lab director at @broadinstitute
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
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
Kaitlin Samocha @ksamocha.bsky.social Assistant Investigator @ MGH / Broad / HMS. Focus on human genomics and modeling rare variation. She/her
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
Caroline Wright @carolinefwright.bsky.social Academic research scientist in human genetics and genomic medicine; pianist & composer; hiker & outdoors enthusiast. 
Matt Hurles @mehurles.bsky.social Director, Wellcome Sanger Institute. Decipherer of developmental disorders. Co-founder Congenica. Dad, husband, cyclist, gardener. Views own.
Bluesky @bsky.app official Bluesky account (check username👆)
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