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
Associate Professor at Erasmus MC. MD, PhD, Clinical Geneticist, interested in gene regulation and the non-coding genome, bridging research and patient care
Investigating molecular mechanisms associated with mitochondrial disease and disorders of autophagy 🧬
RNA biology, evolution, rare disease and cancer
Translating science from bench to bedside and from jargon to lay language
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.
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
