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.
Our mission is to enable the promise of genomics to better human health by creating the world’s most advanced sequencing technologies.
Finished a human genome, working on a few more 👨💻
Lab: https://genomeinformatics.github.io
Posts are my own
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
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
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
Associate Professor. UW Center for Rare Disease Research, @MyGene2, Deputy Editor of @HGGAdvances. #raredisease genetics. CovidWA data
Molecular geneticist | Neurogenetics | repeat expansions | chromosome X | snRNAs | and more
Physician scientist @ St. Jude
(neuro)genetics | genomics
epilepsy | rare disease | precision medicine
A leading peer-reviewed genomics journal. https://genome.cshlp.org
Submit: http://submit.genome.org
https://mrvollger.github.io
Head of CompBio at PacBio interested in rare disease, variant calling, population genetics and more. Opinions/views are my own and do not reflect the views of my employer.
Postdoc at RadboudUMC. Likes bioinformatics, long reads and all kinds of genomic variants
Rare disease genomics 🧬 transcriptomics researcher from 🇳🇱 now in Maastricht after a great experience in Adelaide 🇦🇺
Het Radboudumc is een universitair medisch centrum voor patiëntenzorg, onderzoek en onderwijs, gevestigd in Nijmegen.
Advancing prevention, diagnosis and treatment research for the 30 million people living with a rare disease in Europe.
🔗 erdera.org
Co-funded by European Union's #HorizonEU Research & Innovation programme. Views expressed are of authors only.
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
official Bluesky account (check username👆)
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