Vivia Khosasih

PhD in Molecular Medicine (Human Genetics) ◎ #eLifeAmbassadors @eLifeCommunity ◎ 2023 ASAPbioFellows @ASAPbio_ ◎ #FirstGen ◎ she/her

[Vivia Khosasih @khovivia]

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)

[jobRxiv @jobRxiv]

Researcher in Molecular Parasitology

Uppsala University - Uppsala, Sweden

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https://t.co/TwBOK2OxCG

[jobRxiv @jobRxiv]

Postdoctoral studies in regulatory genomics in neuroscience (scholarship)

Karolinska Institute - Stockholm, Sweden

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https://t.co/apwb7qiJmf

[jobRxiv @jobRxiv]

Postdoctoral Researcher, SciLifeLab Genomics Platform

Uppsala University - Uppsala, Sweden

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https://t.co/AgqdiAcxF6

[jobRxiv @jobRxiv]

R&D Analytical Development Physico-chemistry Scientist (Fixed-term)

Thermo Fisher - Charleroi, Belgium

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https://t.co/NTwfj623Lo

[jobRxiv @jobRxiv]

Scientist, Discovery Immunology

Johnson and Johnson - Beerse, Belgium

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https://t.co/haDr1sCmrL

[jobRxiv @jobRxiv]

Scientist Research & Development

Thermo Fisher - Vienna, Austria

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https://t.co/r5zhe7pkPT

[jobRxiv @jobRxiv]

Scientist - Microbiologist, Orthopaedics

Johnson and Johnson - Blackpool, UK

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https://t.co/vqGkZPVA2X

[jobRxiv @jobRxiv]

Postdoc in Genetic and Molecular Mechanisms of Metabolic Regulation

University of Copenhagen - Copenhagen, Denmark

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https://t.co/05Iz3LuHdS

[jobRxiv @jobRxiv]

Scientist, Biological Research

Johnson and Johnson - Beerse, Belgium

Read the full job description and apply⤵️
https://t.co/iQ8U7b8xhC

[Cerebras @cerebras]

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.

[Vivia Khosasih @khovivia]

@ThePhDPlace The uncertainty.

[Vivia Khosasih @khovivia]

@ayushjaiswal Just applied. I would be glad to help. Indonesian still lags behind English models in accuracy and cultural/contextual understanding.

[Marios Georgakis @MariosGeorgakis]

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

[UK Biobank @uk_biobank]

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

[Nicholas Fabiano, MD @NTFabiano]

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.

[Doug Speed @dougthespeed]

My postdoc, Jasper Hof, has made a video tutorial on how to perform a GWAS on the UK Biobank RAP. You can view it at https://t.co/4lNIDFtxKj.

[Sebastian S. Cocioba🪄🌷 @ATinyGreenCell]

Here's a tutorial I wrote on how I design detection and cloning primers using Primer3. Hopefully it's helpful for students. 💚

https://t.co/erGzklumwj

[Marios Georgakis @MariosGeorgakis]

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