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Eva Holtkamp

@Holtkamp_Eva

PhD student in Computational Biology at @gagneurlab at TU Munich | Previously at @StatGenomics @UniHeidelberg
Joined April 2021
231 Following 172 Followers 53 Posts

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Eva Holtkamp @Holtkamp_Eva
Want to aggregate rare variants into a single gene score while capturing diverse functional effects → Check out DeepRVAT, my first paper lead with @brianfclarke now out in @NatureGenet. DeepRVAT scores can be plugged into any testing framework to discover new disease genes.
Brian Clarke @brianfclarke Sep 25, 2024
🧵 1/9 Delighted to announce that #DeepRVAT is out today in Nature Genetics! Here's a recap of our tweetorial from the preprint, with updates for some exciting new results. It's been a joy to work with @Holtkamp_Eva, as well as @gagneurlab and @OliverStegle.
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Eva Holtkamp @Holtkamp_Eva
Want to hear about how DeepRVAT gene impairment scores can be integrated with gene functional representations to boost phenotype prediction and rare variant association testing? Find out at Shubhankar's talk today if you're at #ASHG2024
Shubhankar Londhe @sg_londhe Nov 4, 2024
Looking to enhance rare variant association testing? Catch my platform talk on FuncRVP - a Bayesian rare variant association framework leveraging functional gene embeddings.
Nov 7, 11:30-11:45, Room 501. #ASHG24
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Eva Holtkamp @Holtkamp_Eva
Exciting to see DeepRVAT gene impairment scores integrated with gene functional representations to boost genotype-to-phenotype modeling. Very happy to have contributed to this project!
Shubhankar Londhe @sg_londhe Jul 26, 2024
1/n Do you want to push rare variant association testing to the next level? Check out our preprint of FuncRVP, a Bayesian rare variant association framework leveraging functional gene embeddings. biorxiv.org/content/10.110…
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