RDND Lab at King’s College London led by Cristina Dias. Clinical Geneticist and Rare Disease researcher. Rare Conditions, neurodevelopmental disorders of chromatin regulation and chromatin remodeller-TF interactions.
https://tinyurl.com/rdndkcl
Milwaukee's strongest soldier in the War on Cars. I write and edit @thetransferflow.bsky.social. Data and scouting @ Crux Football. Former: Angel City. Contact: kim [at] varianceincorporated [dot] com.
Newcastle United Data & Analysis 📊📈#NUFC. Snr. Product Marketing Manager at Hudl Statsbomb. Owner of www.editradio.org New Music podcast. All views my own.
📧 newsletter - editkev.football
StatisticalGenetics
@depgenafrica
@SGDPCentreKCL
Philippians 4:13 #MUFC #LOSC_Lille, #Rware_City 🇰🇪
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.
Genomics, technology and human genetics @University of Washington. Working to create an atlas of variant effects and resolve VUS.
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.
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/
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)
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/
https://linktr.ee/ESHGYoung
The International Mouse Phenotyping Consortium (IMPC) is an international programme to find the function of every protein-coding gene in the mouse genome.
Molecular geneticist | Neurogenetics | repeat expansions | chromosome X | snRNAs | and more
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
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/
The Ensembl project seeks to enable genomic science by providing high-quality, integrated annotation.
Vertebrates: www.ensembl.org
Non-vertebrates: www.ensemblgenomes.org
You can test the new Ensembl browser and share your feedback at beta.ensembl.org
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.
Academic research scientist in human genetics and genomic medicine; pianist & composer; hiker & outdoors enthusiast.
Bioinformatics Scientist / Next Generation Sequencing, Single Cell and Spatial Biology, Next Generation Proteomics, Liquid Biopsy, SynBio, AI/ML in biotech // http://albertvilella.substack.com
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.
🔬Ensembl training
🇬🇧 EMBL-EBI Cambridge UK
PhD in molecular biology
ESHG Social Media Chair
We’re working to enable faster and deeper genomic research, to bring genomic healthcare to all who need it.
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/
GA4GH sets standards and frames policies to expand genomic and health data use within a human rights framework.
https://www.ga4gh.org
Doctoral researcher @CeliRes_TAU | @TampereUniMet | Former member & Consultant @eshgyoung.bsky.social
Medical geneticist studying rare neurodevelopmental and neurogenetic disorders. PhD student at University of Manchester
Geneticist, product manager & photographer #humangenetics #moleculardx #womenshealth #socialmedia. Opinions stated are my own. https://www.linkedin.com/in/agnieszkacaruso/
The UCSC Genome Browser is a public, freely available, open-source web-based graphical viewer for displaying genome sequences and their annotations.
🧬Founded in 1948, the American Society of Human Genetics (ASHG) is the primary professional membership organization for #humangenetics specialists worldwide.
www.ashg.org
#AssociateProf #CompBio #Omics #WomenInScience #LGBTQ+Ally #Scottish #PrecisionMedicine #HealthCare #MDx #ME/CFS #RareDisease #Informatics #SciFiNerd #LongCovidAffected
sites.uab.edu/cgds/ she/her
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
A leading peer-reviewed genomics journal. https://genome.cshlp.org
Submit: http://submit.genome.org
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
Genetics/Genomics doc, Nazareth Hospital biker, developing solutions for #RareDisease and Digital Healthcare on a #Psion Series 3a. Want to see peace in Northern Ireland, Israel-Palestine & Planet Earth. https://shanemuk.github.io
Geneticist & cyclist & lots more! Beagáinín gaelige 🇮🇪
People.ucd.ie/sally.lynch
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.
#MD, #PhD | #Pediatrics | #Medical #Genetics | #Human #Genetics | #Cardiovascular | #Congenital | #Genome #Sequencing | #HealthEcon | #Causal #Inference
belmontgenetics.org
Genetics/genomics. Here in my personal capacity. Google Scholar: https://scholar.google.com/citations?user=A0oDqUQAAAAJ&hl=en
Head, Clinical Genomics Lab | Director, Genomics & Inherited Disease Program, Garvan Institute, Sydney | Cardiac Genetic Counsellor | Feminist | Willow’s human | Swiftie 🫶🏻 #cardiogen #genechat #cardiosky
Postdoc with Z.Kutalik | research fellow with Lili Milani | Statistical modelling of haplotypes - parent of origin | skier, climber, windsurfer
Head of Estonian Biobank & Professor of Pharmacogenomics at the Estonian Genome Centre, University of Tartu.
Professor at KTH, NY Genome Center, SciLifeLab, working on functional genomics and human genetics.
Human geneticist 🧬, bioinformagician 🧙🏻♂️, choral musician 🎼, and unrepentant city slicker 🏙️. Amplifying interesting signals (like #ScienceWin)! [he/him]
https://orcid.org/0000-0003-3466-1846
Interim Director General EMBL. I have an insatiable love of biology. Consultant to ONT and Cantata (Dovetail)
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.
👨⚕️ 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 + 🎭🎨🎾⚽️
Electronic Genome mapper (EGM) using Nabsys OhmX, NGS, DNA, genomics, structural variants, fact-based politics, a little sports
Medical Director and Department Chair, Institute of Human Genetics, Heidelberg University
Associate Professor. UW Center for Rare Disease Research, @MyGene2, Deputy Editor of @HGGAdvances. #raredisease genetics. CovidWA data
Assistant Investigator @ MGH / Broad / HMS. Focus on human genomics and modeling rare variation. She/her
Neurogeneticist interested in the relations between genes, brains, and minds. Author of INNATE (2018) and FREE AGENTS (2023)
Finished a human genome, working on a few more 👨💻
Lab: https://genomeinformatics.github.io
Posts are my own
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/
Scientific strategist | Storyteller | Genomics, Lab diagnostic and high throughput automation | Coder | Comments are my own | Omic.ly
Computational biologist. Geriatric Millennial. Professor, University of Cambridge. Director of Data Sciences, Baker Heart & Diabetes Institute. British | Australian | American.
www.inouyelab.org | Cambridge, UK
Bioinformatics 🧬🖥️🧪
#PLOS Comp Biol Education Sect. Editor;
#DATABASE OUP Associate Editor;
#OpenScience #OpenAccess #OpenData;
friend of @jxtxfoundation.bsky.social,
@abinstitute.bsky.social
- I am 🇨🇦
Human Geneticist/Genomicist working on Mendelian & rare genetic disorders to enable Precision Medicine. Opinions are my own.
@cgonzagaj everywhere 🐦🦣☁️🧵
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
Computational biologist. Genetics of Rare Diseases, Essential Genes, Statistics, R.
Honesty matters.
Physician scientist @ St. Jude
(neuro)genetics | genomics
epilepsy | rare disease | precision medicine
Clinical Geneticist, VCGS. Professor, University of Melbourne. Rare disease genomics. 🧬🇦🇺
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
Group Leader at Imagine Institute | Inserm | Neurogenomics | Somatic mosaicism | Neurodevelopment | Lineage tracing | Developmental disorders | DRN board member
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/
Medical statistician, work with genetic data to disentangle causation from correlation. Author of book on Mendelian randomization.
Associate Professor of Bioinformatics at University of Tartu, Estonia. Project lead at eQTL Catalogue. https://kauralasoo.github.io/
Assistant Prof at D-BSSE, ETH Zurich, studying genetics of complex traits, with a focus on psychiatric disorders
www.nacailab.com
Assistant Professor 👩🏼💻 at Erasmus Medical Center Rotterdam researching genetics & gene regulation 🧬🖥 in the context of disease 🥼💉📊
Laboratory of Pietro De Camilli - Department of Neuroscience at Yale University
MD, specialist and PhD in medical genetics. Journalist. BioNerd. Love hiking and nature 💚
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
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
Genomic medicine researcher; chief genomics officer at MGH; clinical lab director at @broadinstitute
Associate Prof in health data science @HiLIFE_helsinki @FIMM_UH - MGH/Harvard - Playing with all kind of data - http://dsgelab.org
Statistical Geneticist, Group leader at University of Lausanne/Unisante, father, climber, runner
🧬 Clinical Geneticist in London | Paediatric focus | Innovating patient care through genomics 🇬🇧 🇪🇬🔬
Professor of Biomedical Informatics @InfAtEd, Dir. @AI4BI_CDT - Bioinformatics, Machine Learning, BioNLP, Genomics, Genetic Disease
Prof of Public Engagement in Science, Uni of Birmingham; anatomist, author, broadcaster; vice President of Humanists UK. All views my own.
Postdoc at Oxford in neurogenetics 🧬 Previously PhD at Sanger/Cambridge, ACB at Broad. Harvard cognitive neuro 🧠
Genomics initiative lead at @GoogleDeepMind.
Models from our team: Enformer, AlphaMissense, and AlphaGenome.
Lecturer in Systems Biology at the University of Sheffield. Interested in bioinformatics, RNA, splicing, big data, rare disease diagnostics and neuroscience. Also dogs.
Director, Wellcome Sanger Institute. Decipherer of developmental disorders. Co-founder Congenica. Dad, husband, cyclist, gardener. Views own.
Prof Psychiatric Genetics KCL. Lead King's Genomics facility, Genetic Links to Anxiety and Depression (GLAD) Study, and the UK Eating Disorders Genetics Initiative (EDGI-UK). Gratitude to my wonderful research group, staff, and collaborators.
Group Leader in Human Genetics, Wellcome Sanger Institute
MRC Career Development Fellow, Lecturer in Health Data Science, University of Exeter. Academic in genetics, rare variants and complex traits
CEO @GenomicsEngland, Honorary Consultant and Associate Professor in Clinical Genetics @GOSH. Still just about a runner
Professor at King's College London - genomics, epigenomics, host-microbiome interactions, multi-omics
Professor of Genomics at King's College London
Happy European human geneticist enjoying life in the United Kingdom. Love everything genomics, even married a genomicist..;)
American scientist doing pharma research in the UK for Insmed. Human genetics, variant calling, bioinformatics, and rare disease.
GWAS whisperer.
It's usually the closest gene.
Executive Director, Integrative Biology, Internal Medicine Research Unit. Pfizer R&D. All views my own.
Also cats.
Interested in genetics, development, and brain. Associate prof of neurodev. research at Cambridge.
Bluesky newbie. Twitter exile. Previously Professor of Diabetes in Oxford, now heading human genetics at Genentech. Living the California dream. Views my own. #YNWA
Genomic Data Scientist @GenomicsEngland
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,
Senior statistical geneticist at the Big Data Institute in Oxford, in the centre for SMARTbiomed
