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.
Illuminating math and science. Supported by the Simons Foundation. 2022 Pulitzer Prize in Explanatory Reporting. www.quantamagazine.org
PhD student - Machine Learning for Conservation.
Dias&Frazer Lab @crg.eu with Mafalda Días and @jonnyfrazer.bsky.social
Hola! We are the CRG, a research institute exploring the frontiers of biology in Barcelona. Som un centre CERCA. www.crg.eu
PhD Student at @CRG.eu | Synthetic Biology, Proteins & Evolution 🧬 | AI4ProteinDesign Lab
PhD student @CRG.eu, Dias-Frazer Lab, Irimia Lab | Probabilistic Machine Learning and Computational Biology, Evolutionary Biology
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
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.
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
Using genomic information to improve medicine
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.
Scientist at University of Edinburgh. Director of MRC Human Genetics Unit but posting in my own capacity.
AI slop (except one) enjoyer
Assistant Investigator @ MGH / Broad / HMS. Focus on human genomics and modeling rare variation. She/her
#AssociateProf #CompBio #Omics #WomenInScience #LGBTQ+Ally #Scottish #PrecisionMedicine #HealthCare #MDx #ME/CFS #RareDisease #Informatics #SciFiNerd #LongCovidAffected
sites.uab.edu/cgds/ she/her
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)
Associate Professor. UW Center for Rare Disease Research, @MyGene2, Deputy Editor of @HGGAdvances. #raredisease genetics. CovidWA data
Human Geneticist/Genomicist working on Mendelian & rare genetic disorders to enable Precision Medicine. Opinions are my own.
@cgonzagaj everywhere 🐦🦣☁️🧵
