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Science (New York, N.Y.)|May 29, 2025
Predicting expression-altering promoter mutations with deep learningKishore Jaganathan, Nicole Ersaro, Gherman Novakovsky, et al.Nature Communications|June 26, 2019
Pathologic gene network rewiring implicates PPP1R3A as a central regulator in pressure overload heart failurePablo Cordero, Victoria N Parikh, Elizabeth T Chin, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 20, 2024
Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorderJennefer N Kohler, Nicole R Legro, Dustin Baldridge, et al.Arxiv|January 7, 2025
GREGoR: Accelerating Genomics for Rare DiseasesMoez Dawood, Ben Heavner, Marsha M Wheeler, et al.Plos Genetics|February 10, 2011
The architecture of gene regulatory variation across multiple human tissues: the MuTHER studyAlexandra C Nica, Leopold Parts, Daniel Glass, et al.Cell|October 1, 2024
Detection and analysis of complex structural variation in human genomes across populations and in brains of donors with psychiatric disordersBo Zhou, Joseph G Arthur, Hanmin Guo, et al.Nature|November 12, 2025
GREGoR: accelerating genomics for rare diseasesMoez Dawood, Ben Heavner, Marsha M Wheeler, et al.American Journal of Human Genetics|April 3, 2026
Multi-ancestry transcriptome prediction with functionally informed variants in TOPMed MESA improves performance of transcriptome-wide association studiesXiaowei Hu, Daniel S Araujo, Chachrit Khunsriraksakul, et al.Nature|December 6, 2023
Organ aging signatures in the plasma proteome track health and diseaseHamilton Se-Hwee Oh, Jarod Rutledge, Daniel Nachun, et al.Cell Genomics|October 23, 2023
The functional impact of rare variation across the regulatory cascadeTaibo Li, Nicole Ferraro, Benjamin J Strober, et al.Pageof 20