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Publications

Integrating genetic regulation and single-cell expression with GWAS prioritizes causal genes and cell types for glaucoma.

Hamel AR, Yan W, Rouhana JM, et al. Integrating genetic regulation and single-cell expression with GWAS prioritizes causal genes and cell types for glaucoma. Nature communications. 2024;15(1):396. doi:10.1038/s41467-023-44380-y

Distinct and shared genetic architectures of gestational diabetes mellitus and type 2 diabetes.

Elliott A, Walters RK, Pirinen M, et al. Distinct and shared genetic architectures of gestational diabetes mellitus and type 2 diabetes. Nature genetics. 2024. doi:10.1038/s41588-023-01607-4

Prediction of single-cell RNA expression profiles in live cells by Raman microscopy with Raman2RNA.

Kobayashi-Kirschvink KJ, Comiter CS, Gaddam S, et al. Prediction of single-cell RNA expression profiles in live cells by Raman microscopy with Raman2RNA. Nature biotechnology. 2024. doi:10.1038/s41587-023-02082-2

Persistent Salmonella infections in humans are associated with mutations in the BarA/SirA regulatory pathway.

Grote A, Piscon B, Manson AL, et al. Persistent Salmonella infections in humans are associated with mutations in the BarA/SirA regulatory pathway. Cell host & microbe. 2024;32(1):79-92.e7. doi:10.1016/j.chom.2023.12.001

Priming agents transiently reduce the clearance of cell-free DNA to improve liquid biopsies.

Martin-Alonso C, Tabrizi S, Xiong K, et al. Priming agents transiently reduce the clearance of cell-free DNA to improve liquid biopsies. Science (New York, N.Y.). 2024;383(6680):eadf2341. doi:10.1126/science.adf2341

Splicing modulators impair DNA damage response and induce killing of cohesin-mutant MDS and AML.

Wheeler EC, Martin BJE, Doyle WC, et al. Splicing modulators impair DNA damage response and induce killing of cohesin-mutant MDS and AML. Science translational medicine. 2024;16(728):eade2774. doi:10.1126/scitranslmed.ade2774

Integrative genotyping of cancer and immune phenotypes by long-read sequencing.

Penter L, Borji M, Nagler A, et al. Integrative genotyping of cancer and immune phenotypes by long-read sequencing. Nature communications. 2024;15(1):32. doi:10.1038/s41467-023-44137-7

Control of lipolysis by a population of oxytocinergic sympathetic neurons.

Li E, Wang L, Wang D, et al. Control of lipolysis by a population of oxytocinergic sympathetic neurons. Nature. 2024;625(7993):175-180. doi:10.1038/s41586-023-06830-x

Kinship practices in Early Iron Age southeast Europe: genetic and isotopic analysis of burials from the Dolge njive barrow cemetery, Dolenjska, Slovenia.

Armit I, Fischer CE, Koon H, et al. Kinship practices in Early Iron Age southeast Europe: genetic and isotopic analysis of burials from the Dolge njive barrow cemetery, Dolenjska, Slovenia. Antiquity. 2023;97(392):403-418. doi:10.15184/aqy.2023.2

The ENCODE Imputation Challenge: a critical assessment of methods for cross-cell type imputation of epigenomic profiles.

Schreiber JM, Boix CA, Lee JW, et al. The ENCODE Imputation Challenge: a critical assessment of methods for cross-cell type imputation of epigenomic profiles. Genome biology. 2023;24(1):79. doi:10.1186/s13059-023-02915-y