Publications

Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease.

Gupta Y, Friedman DJ, McNulty MT, et al. Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease. Nature communications. 2023;14(1):7836. doi:10.1038/s41467-023-43020-9

Cell-type-specific Alzheimer's disease polygenic risk scores are associated with distinct disease processes in Alzheimer's disease.

Yang HS, Teng L, Kang D, et al. Cell-type-specific Alzheimer’s disease polygenic risk scores are associated with distinct disease processes in Alzheimer’s disease. Nature communications. 2023;14(1):7659. doi:10.1038/s41467-023-43132-2

kallisto, bustools, and kb-python for quantifying bulk, single-cell, and single-nucleus RNA-seq.

Sullivan DK, Min KHJ, Hjörleifsson KE, et al. kallisto, bustools, and kb-python for quantifying bulk, single-cell, and single-nucleus RNA-seq. bioRxiv : the preprint server for biology. 2023. doi:10.1101/2023.11.21.568164

DLBCL arising from indolent lymphomas: How are they different?

Parry EM, Roulland S, Okosun J. DLBCL arising from indolent lymphomas: How are they different? Seminars in hematology. 2023. doi:10.1053/j.seminhematol.2023.11.002

Deep generative modeling of the human proteome reveals over a hundred novel genes involved in rare genetic disorders.

Orenbuch R, Kollasch AW, Spinner HD, et al. Deep generative modeling of the human proteome reveals over a hundred novel genes involved in rare genetic disorders. medRxiv : the preprint server for health sciences. 2023. doi:10.1101/2023.11.27.23299062

variants contribute to FSGS susceptibility across multiple populations.

Skitchenko R, Modrusan Z, Loboda A, et al. variants contribute to FSGS susceptibility across multiple populations. medRxiv : the preprint server for health sciences. 2023. doi:10.1101/2023.11.20.23298462

SARS-CoV-2 Orphan Gene ORF10 Contributes to More Severe COVID-19 Disease.

Haltom J, Trovão NS, Guarnieri J, et al. SARS-CoV-2 Orphan Gene ORF10 Contributes to More Severe COVID-19 Disease. medRxiv : the preprint server for health sciences. 2023. doi:10.1101/2023.11.27.23298847

Polygenic risk scores as a marker for epilepsy risk across lifetime and after unspecified seizure events.

Heyne HO, Pajuste FD, Wanner J, et al. Polygenic risk scores as a marker for epilepsy risk across lifetime and after unspecified seizure events. medRxiv : the preprint server for health sciences. 2023. doi:10.1101/2023.11.27.23297542

Cross-species and tissue imputation of species-level DNA methylation samples across mammalian species.

Maciejewski E, Horvath S, Ernst J. Cross-species and tissue imputation of species-level DNA methylation samples across mammalian species. bioRxiv : the preprint server for biology. 2023. doi:10.1101/2023.11.26.568769

The genetic contribution to the comorbidity of depression and anxiety: a multi-site electronic health records study of almost 178 000 people.

Coombes BJ, Landi I, Choi KW, et al. The genetic contribution to the comorbidity of depression and anxiety: a multi-site electronic health records study of almost 178 000 people. Psychological medicine. 2023;53(15):7368-7374. doi:10.1017/S0033291723000983