2 weeks to the International Kawasaki Disease Awareness Day. As we get closer to 26 January, I will share everything (well, not really everything) I've learned so far about it in Bahasa Indonesia to clarify some misconceptions about the disease in my home country. (1/n)
Postdoctoral studies in regulatory genomics in neuroscience (scholarship)
Karolinska Institute - Stockholm, Sweden
Read the full job description and apply⤵️
https://t.co/apwb7qiJmf
Postdoctoral Researcher, SciLifeLab Genomics Platform
Uppsala University - Uppsala, Sweden
Read the full job description and apply⤵️
https://t.co/AgqdiAcxF6
R&D Analytical Development Physico-chemistry Scientist (Fixed-term)
Thermo Fisher - Charleroi, Belgium
Read the full job description and apply⤵️
https://t.co/NTwfj623Lo
Postdoc in Genetic and Molecular Mechanisms of Metabolic Regulation
University of Copenhagen - Copenhagen, Denmark
Read the full job description and apply⤵️
https://t.co/05Iz3LuHdS
Introducing ExomeBench: a benchmark for evaluating genomic models on disease-associated genetic variants, built in collaboration with with @MayoClinic.
Most genomics benchmarks focus on general sequence modeling tasks. What remains under-evaluated is whether these models can answer clinically meaningful questions about genetic variants.
That's why we built ExomeBench and are releasing it to the public: a benchmark for evaluating health-relevant variant interpretation in exome regions.
The largest GWAS for Alzheimer's disease is now out
👉109,479 cases, 74,141 proxy cases, 2,131,799 controls, 499,708 proxy controls
👉improved SNP-based heritability: 5% in previous studies --> 19%
👉127 loci, 48 novel with enrichment in microglia & neurons
Some new exciting metabolomic work from @NgaleHealth using UK Biobank data 🔽
Metabolomic data for the full UK Biobank cohort will be made available to all researchers as part of our upcoming data release next month.
https://t.co/86tiXeDSuO
Huntington's disease was successfully treated for the first time with gene therapy.
75% reduction in symptoms & 113% protection of cognition.
This is what a real medical breakthrough looks like.
GWASs require huge samples that are unrealistic for uncommon diseases🧬
📊KGWAS uses GNNs to integrate multi-modal functional genomic data enabling
👉2x GWAS power at 1K sample size
👉2.6X fewer samples for same number of variant associations
👉more efficient post-GWAS analyses