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The American Journal of Surgical Pathology|April 20, 2013
Desktop transcriptome sequencing from archival tissue to identify clinically relevant translocationsRobert T Sweeney, Bing Zhang, Shirley X Zhu, et al.
American Journal of Human Genetics|September 6, 2014
Transcriptome sequencing of a large human family identifies the impact of rare noncoding variantsXin Li, Alexis Battle, Konrad J Karczewski, et al.
Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing|December 4, 2013
PATH-SCAN: a reporting tool for identifying clinically actionable variantsRoxana Daneshjou, Zachary Zappala, Kim Kukurba, et al.
Genome Medicine|March 16, 2022
Integration of genetic colocalizations with physiological and pharmacological perturbations identifies cardiometabolic disease genesMichael J Gloudemans, Brunilda Balliu, Daniel Nachun, et al.
Nature|September 25, 2024
Single-cell multi-omics map of human fetal blood in Down syndromeAndrew R Marderstein, Marco De Zuani, Rebecca Moeller, et al.
Communications Biology|May 25, 2019
Genetic analyses of human fetal retinal pigment epithelium gene expression suggest ocular disease mechanismsBoxiang Liu, Melissa A Calton, Nathan S Abell, et al.
Genome Research|September 11, 2012
Sex-biased genetic effects on gene regulation in humansAntigone S Dimas, Alexandra C Nica, Stephen B Montgomery, et al.
Genome Research|May 5, 2004
Sockeye: a 3D environment for comparative genomicsStephen B Montgomery, Tamara Astakhova, Mikhail Bilenky, et al.
American Journal of Human Genetics|June 4, 2024
Impact of genome build on RNA-seq interpretation and diagnosticsRachel A Ungar, Pagé C Goddard, Tanner D Jensen, et al.
Frontiers in Immunology|August 28, 2024
Genomic insights into pediatric intestinal inflammatory and eosinophilic disorders using single-cell RNA-sequencingMarissa R Keever-Keigher, Lisa Harvey, Veronica Williams, et al.
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