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Publications

scooby: Modeling multi-modal genomic profiles from DNA sequence at single-cell resolution.

Hingerl JC, Martens LD, Karollus A, et al. scooby: Modeling multi-modal genomic profiles from DNA sequence at single-cell resolution. bioRxiv : the preprint server for biology. 2024. doi:10.1101/2024.09.19.613754

Genomic analysis of intracranial and subcortical brain volumes yields polygenic scores accounting for variation across ancestries.

García-Marín LM, Campos AI, Diaz-Torres S, et al. Genomic analysis of intracranial and subcortical brain volumes yields polygenic scores accounting for variation across ancestries. medRxiv : the preprint server for health sciences. 2024. doi:10.1101/2024.08.13.24311922

Exome wide association study for blood lipids in 1,158,017 individuals from diverse populations.

Koyama S, Yu Z, Choi SH, et al. Exome wide association study for blood lipids in 1,158,017 individuals from diverse populations. medRxiv : the preprint server for health sciences. 2024. doi:10.1101/2024.09.17.24313718

Plasma adenosine deaminase-1 and -2 activities are lower at birth in Papua New Guinea than in The Gambia but converge over the first weeks of life.

Kouyate TS, Nguyen AN, Plotkin AL, et al. Plasma adenosine deaminase-1 and -2 activities are lower at birth in Papua New Guinea than in The Gambia but converge over the first weeks of life. Frontiers in immunology. 2024;15:1425349. doi:10.3389/fimmu.2024.1425349

FAVOR-GPT: a generative natural language interface to whole genome variant functional annotations.

Li TC, Zhou H, Verma V, et al. FAVOR-GPT: a generative natural language interface to whole genome variant functional annotations. Bioinformatics advances. 2024;4(1):vbae143. doi:10.1093/bioadv/vbae143

Somatic mosaicism in schizophrenia brains reveals prenatal mutational processes.

Maury EA, Jones A, Seplyarskiy V, et al. Somatic mosaicism in schizophrenia brains reveals prenatal mutational processes. Science (New York, N.Y.). 2024;386(6718):217-224. doi:10.1126/science.adq1456

Helicase-assisted continuous editing for programmable mutagenesis of endogenous genomes.

Chen XD, Chen Z, Wythes G, et al. Helicase-assisted continuous editing for programmable mutagenesis of endogenous genomes. Science (New York, N.Y.). 2024;386(6718):eadn5876. doi:10.1126/science.adn5876

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. Nature protocols. 2024. doi:10.1038/s41596-024-01057-0

Smartphone Screen Time Characteristics in People With Suicidal Thoughts: Retrospective Observational Data Analysis Study.

Karas M, Huang D, Clement Z, et al. Smartphone Screen Time Characteristics in People With Suicidal Thoughts: Retrospective Observational Data Analysis Study. JMIR mHealth and uHealth. 2024;12:e57439. doi:10.2196/57439

Tertiary lymphoid structure formation: A matter of tumor-immune co-evolution.

van der Leun AM. Tertiary lymphoid structure formation: A matter of tumor-immune co-evolution. Molecular immunology. 2024;175:143-145. doi:10.1016/j.molimm.2024.09.012