Publications

Structural variation across 138,134 samples in the TOPMed consortium.

Jun G, English AC, Metcalf GA, et al. Structural variation across 138,134 samples in the TOPMed consortium. bioRxiv : the preprint server for biology. 2023. doi:10.1101/2023.01.25.525428

A genetic basis for cancer sex differences revealed in Xp11 translocation renal cell carcinoma.

Achom M, Sadagopan A, Bao C, et al. A genetic basis for cancer sex differences revealed in Xp11 translocation renal cell carcinoma. bioRxiv : the preprint server for biology. 2023. doi:10.1101/2023.08.04.552029

The ENCODE Uniform Analysis Pipelines.

Hitz BC, Jin-Wook L, Jolanki O, et al. The ENCODE Uniform Analysis Pipelines. bioRxiv : the preprint server for biology. 2023. doi:10.1101/2023.04.04.535623

Systematic characterization of therapeutic vulnerabilities in Multiple Myeloma with Amp1q reveals increased sensitivity to the combination of MCL1 and PI3K inhibitors.

Sklavenitis-Pistofidis R, Lightbody ED, Reidy M, et al. Systematic characterization of therapeutic vulnerabilities in Multiple Myeloma with Amp1q reveals increased sensitivity to the combination of MCL1 and PI3K inhibitors. bioRxiv : the preprint server for biology. 2023. doi:10.1101/2023.08.01.551480

CHARR efficiently estimates contamination from DNA sequencing data.

Lu W, Gauthier LD, Poterba T, et al. CHARR efficiently estimates contamination from DNA sequencing data. bioRxiv : the preprint server for biology. 2023. doi:10.1101/2023.06.28.545801

deletion induces PKR-dependent cell lethality in interferon-activated cancer cells.

Zou T, Zhou M, Gupta A, et al. deletion induces PKR-dependent cell lethality in interferon-activated cancer cells. bioRxiv : the preprint server for biology. 2023. doi:10.1101/2023.08.01.551488

Synthetic genetic circuits to uncover and enforce the OCT4 trajectories of successful reprogramming of human fibroblasts.

Ilia K, Shakiba N, Bingham T, et al. Synthetic genetic circuits to uncover and enforce the OCT4 trajectories of successful reprogramming of human fibroblasts. bioRxiv : the preprint server for biology. 2023. doi:10.1101/2023.01.25.525529

Exome-wide evidence of compound heterozygous effects across common phenotypes in the UK Biobank.

Lassen FH, Venkatesh SS, Baya N, et al. Exome-wide evidence of compound heterozygous effects across common phenotypes in the UK Biobank. medRxiv : the preprint server for health sciences. 2023. doi:10.1101/2023.06.29.23291992

Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project.

Stenton SL, O’Leary M, Lemire G, et al. Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project. medRxiv : the preprint server for health sciences. 2023. doi:10.1101/2023.08.02.23293212

Compressed phenotypic screens for complex multicellular models and high-content assays.

Mead BE, Kummerlowe C, Liu N, et al. Compressed phenotypic screens for complex multicellular models and high-content assays. bioRxiv : the preprint server for biology. 2023. doi:10.1101/2023.01.23.525189

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Publications

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