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bioRxiv · November 16, 2023 · Preprint
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bioRxiv · November 1, 2023 · Preprint
Small variant benchmark from a complete assembly of X and Y chromosomes.
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bioRxiv · October 27, 2023 · Preprint
AlphaMissense is better correlated with functional assays of missense impact than earlier prediction algorithms.
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bioRxiv · October 20, 2023 · Preprint
LKB1 suppresses growth and promotes the internalization of EGFR through the PIKFYVE lipid kinase.
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bioRxiv · October 17, 2023 · Preprint
Large-scale causal discovery using interventional data sheds light on the regulatory network architecture of blood traits.
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bioRxiv · October 17, 2023 · Preprint
Detecting significantly recurrent genomic connections from simple and complex rearrangements in the cancer genome.
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bioRxiv · October 12, 2023 · Preprint
A sequence context-based germline filter for structural variant calling from tumor samples without paired normal.
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bioRxiv · September 12, 2023 · Preprint
Multi-OMIC analysis of Huntington disease reveals a neuroprotective astrocyte state.
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bioRxiv · September 12, 2023 · Preprint
Cas13d-mediated isoform-specific RNA knockdown with a unified computational and experimental toolbox.
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medRxiv · September 12, 2023 · Preprint
Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease.