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Integration of variant annotations using deep set networks boosts rare variant association testing.
Nat Genet. 2024 Oct;56(10):2271-2280. doi: 10.1038/s41588-024-01919-z. Epub 2024 Sep 25.
Nat Genet. 2024.
PMID: 39322779
Free PMC article.
Evaluation of input data modality choices on functional gene embeddings.
Brechtmann F, Bechtler T, Londhe S, Mertes C, Gagneur J.
Brechtmann F, et al.
NAR Genom Bioinform. 2023 Nov 2;5(4):lqad095. doi: 10.1093/nargab/lqad095. eCollection 2023 Dec.
NAR Genom Bioinform. 2023.
PMID: 37942285
Free PMC article.
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OUTRIDER: A Statistical Method for Detecting Aberrantly Expressed Genes in RNA Sequencing Data.
Brechtmann F, Mertes C, Matusevičiūtė A, Yépez VA, Avsec Ž, Herzog M, Bader DM, Prokisch H, Gagneur J.
Brechtmann F, et al.
Am J Hum Genet. 2018 Dec 6;103(6):907-917. doi: 10.1016/j.ajhg.2018.10.025. Epub 2018 Nov 29.
Am J Hum Genet. 2018.
PMID: 30503520
Free PMC article.
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