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Publications

SCENT defines non-coding disease mechanisms using single-cell multi-omics.

Sakaue S. SCENT defines non-coding disease mechanisms using single-cell multi-omics. Nature reviews. Genetics. 2024. doi:10.1038/s41576-024-00747-5

Laboratory testing for preconception/prenatal carrier screening: A technical standard of the American College of Medical Genetics and Genomics (ACMG).

Guha S, Reddi H V, Aarabi M, et al. Laboratory testing for preconception/prenatal carrier screening: A technical standard of the American College of Medical Genetics and Genomics (ACMG). Genetics in medicine : official journal of the American College of Medical Genetics. 2024:101137. doi:10.1016/j.gim.2024.101137

CMTR-1 RNA methyltransferase mutations activate widespread expression of a dopaminergic neuron-specific mitochondrial complex I gene.

Meisel JD, Wiesenthal PP, Mootha VK, Ruvkun G. CMTR-1 RNA methyltransferase mutations activate widespread expression of a dopaminergic neuron-specific mitochondrial complex I gene. Current biology : CB. 2024. doi:10.1016/j.cub.2024.04.079

On knowing a gene: A distributional hypothesis of gene function.

Kwon JJ, Pan J, Gonzalez G, Hahn WC, Zitnik M. On knowing a gene: A distributional hypothesis of gene function. Cell systems. 2024. doi:10.1016/j.cels.2024.04.008

Genetic predisposition to high BMI increases risk of early life respiratory infections and episodes of severe wheeze and asthma.

Jensen SK, Pedersen CET, Fischer-Rasmussen K, et al. Genetic predisposition to high BMI increases risk of early life respiratory infections and episodes of severe wheeze and asthma. The European respiratory journal. 2024. doi:10.1183/13993003.00169-2024

A polygenic score method boosted by non-additive models.

Ohta R, Tanigawa Y, Suzuki Y, Kellis M, Morishita S. A polygenic score method boosted by non-additive models. Nature communications. 2024;15(1):4433. doi:10.1038/s41467-024-48654-x

National prevalence of atopic dermatitis in Korean adolescents from 2009 to 2022.

Kattih M, Lee H, Jo H, et al. National prevalence of atopic dermatitis in Korean adolescents from 2009 to 2022. Scientific reports. 2024;14(1):12391. doi:10.1038/s41598-024-62475-4

Structural basis for pegRNA-guided reverse transcription by a prime editor.

Shuto Y, Nakagawa R, Zhu S, et al. Structural basis for pegRNA-guided reverse transcription by a prime editor. Nature. 2024. doi:10.1038/s41586-024-07497-8

Systematic decoding of cis gene regulation defines context-dependent control of the multi-gene costimulatory receptor locus in human T cells.

Mowery CT, Freimer JW, Chen Z, et al. Systematic decoding of cis gene regulation defines context-dependent control of the multi-gene costimulatory receptor locus in human T cells. Nature genetics. 2024. doi:10.1038/s41588-024-01743-5

Intrahepatic plasma cells, but not atypical memory B cells, associate with clinical phases of chronic hepatitis B.

Osmani Z, Villanueva MA, Joseph-Chazan J, et al. Intrahepatic plasma cells, but not atypical memory B cells, associate with clinical phases of chronic hepatitis B. European journal of immunology. 2024:e2451085. doi:10.1002/eji.202451085