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Publications

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

The Cardiovascular Impact and Genetics of Pericardial Adiposity.

Rämö JT, Kany S, Hou CR, et al. The Cardiovascular Impact and Genetics of Pericardial Adiposity. medRxiv : the preprint server for health sciences. 2023. doi:10.1101/2023.07.16.23292729

Rewiring of master transcription factor cistromes during high-grade serous ovarian cancer development.

Nameki RA, Chang H, Yu P, et al. Rewiring of master transcription factor cistromes during high-grade serous ovarian cancer development. bioRxiv : the preprint server for biology. 2023. doi:10.1101/2023.04.11.536378

Understanding the genetic complexity of puberty timing across the allele frequency spectrum.

Kentistou KA, Kaisinger LR, Stankovic S, et al. Understanding the genetic complexity of puberty timing across the allele frequency spectrum. medRxiv : the preprint server for health sciences. 2023. doi:10.1101/2023.06.14.23291322

Large scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy.

Tadros R, Zheng SL, Grace C, et al. Large scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy. medRxiv : the preprint server for health sciences. 2023. doi:10.1101/2023.01.28.23285147

Genotoxic colibactin mutational signature in colorectal cancer is associated with clinicopathological features, specific genomic alterations and better survival.

Georgeson P, Steinfelder RS, Harrison TA, et al. Genotoxic colibactin mutational signature in colorectal cancer is associated with clinicopathological features, specific genomic alterations and better survival. medRxiv : the preprint server for health sciences. 2023. doi:10.1101/2023.03.10.23287127

Single-cell temporal dynamics reveals the relative contributions of transcription and degradation to cell-type specific gene expression in zebrafish embryos.

Fishman L, Nechooshtan G, Erhard F, Regev A, Farrell JA, Rabani M. Single-cell temporal dynamics reveals the relative contributions of transcription and degradation to cell-type specific gene expression in zebrafish embryos. bioRxiv : the preprint server for biology. 2023. doi:10.1101/2023.04.20.537620

Identification of a new Corin atrial natriuretic peptide-converting enzyme substrate: Agouti-signaling protein (ASIP).

MacDonald BT, Elowe NH, Garvie CW, Kaushik VK, Ellinor PT. Identification of a new Corin atrial natriuretic peptide-converting enzyme substrate: Agouti-signaling protein (ASIP). bioRxiv : the preprint server for biology. 2023. doi:10.1101/2023.04.26.538495