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StarPhase: Comprehensive Phase-Aware Pharmacogenomic Diplotyper for Long-Read Sequencing Data.
Holt JM, Harting J, Chen X, Baker D, Saunders CT, Kronenberg Z, Gonzaludo N, Yoo B, Hudjashov G, Joeloo M, Lawlor JMJ, Lim WK; Estonian Biobank Research Team; Jamuar SS, Cooper GM, Milani L, Pastinen T, Eberle MA. Holt JM, et al. Among authors: cooper gm. bioRxiv [Preprint]. 2024 Dec 11:2024.12.10.627527. doi: 10.1101/2024.12.10.627527. bioRxiv. 2024. PMID: 39713404 Free PMC article. Preprint.
Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders.
Hiatt SM, Lawlor JMJ, Handley LH, Latner DR, Bonnstetter ZT, Finnila CR, Thompson ML, Boston LB, Williams M, Rodriguez Nunez I, Jenkins J, Kelley WV, Bebin EM, Lopez MA, Hurst ACE, Korf BR, Schmutz J, Grimwood J, Cooper GM. Hiatt SM, et al. Among authors: cooper gm. Genome Res. 2024 Nov 20;34(11):1747-1762. doi: 10.1101/gr.279227.124. Genome Res. 2024. PMID: 39299904
Multiomic profiling of transcription factor binding and function in human brain.
Loupe JM, Anderson AG, Rizzardi LF, Rodriguez-Nunez I, Moyers B, Trausch-Lowther K, Jain R, Bunney WE, Bunney BG, Cartagena P, Sequeira A, Watson SJ, Akil H, Cooper GM, Myers RM. Loupe JM, et al. Among authors: cooper gm. Nat Neurosci. 2024 Jul;27(7):1387-1399. doi: 10.1038/s41593-024-01658-8. Epub 2024 Jun 3. Nat Neurosci. 2024. PMID: 38831039
Massively parallel characterization of regulatory elements in the developing human cortex.
Deng C, Whalen S, Steyert M, Ziffra R, Przytycki PF, Inoue F, Pereira DA, Capauto D, Norton S, Vaccarino FM; PsychENCODE Consortium‡; Pollen AA, Nowakowski TJ, Ahituv N, Pollard KS; PsychENCODE Consortium. Deng C, et al. Science. 2024 May 24;384(6698):eadh0559. doi: 10.1126/science.adh0559. Epub 2024 May 24. Science. 2024. PMID: 38781390
Single-cell multi-cohort dissection of the schizophrenia transcriptome.
Ruzicka WB, Mohammadi S, Fullard JF, Davila-Velderrain J, Subburaju S, Tso DR, Hourihan M, Jiang S, Lee HC, Bendl J; PsychENCODE Consortium§; Voloudakis G, Haroutunian V, Hoffman GE, Roussos P, Kellis M; PsychENCODE Consortium. Ruzicka WB, et al. Science. 2024 May 24;384(6698):eadg5136. doi: 10.1126/science.adg5136. Epub 2024 May 24. Science. 2024. PMID: 38781388
A data-driven single-cell and spatial transcriptomic map of the human prefrontal cortex.
Huuki-Myers LA, Spangler A, Eagles NJ, Montgomery KD, Kwon SH, Guo B, Grant-Peters M, Divecha HR, Tippani M, Sriworarat C, Nguyen AB, Ravichandran P, Tran MN, Seyedian A; PsychENCODE Consortium†; Hyde TM, Kleinman JE, Battle A, Page SC, Ryten M, Hicks SC, Martinowich K, Collado-Torres L, Maynard KR; PsychENCODE Consortium. Huuki-Myers LA, et al. Science. 2024 May 24;384(6698):eadh1938. doi: 10.1126/science.adh1938. Epub 2024 May 24. Science. 2024. PMID: 38781370 Free PMC article.
467 results