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Bioinformatics (Oxford, England)|September 30, 2017
FIRE: functional inference of genetic variants that regulate gene expressionNilah M Ioannidis, Joe R Davis, Marianne K DeGorter, et al.Nature Genetics|December 11, 2023
Genetic architecture of cardiac dynamic flow volumesBruna Gomes, Aditya Singh, Jack W O'Sullivan, et al.Archives of Pathology & Laboratory Medicine|October 31, 2018
Proficiency Testing of Standardized Samples Shows Very High Interlaboratory Agreement for Clinical Next-Generation Sequencing-Based Oncology AssaysJason D Merker, Kelly Devereaux, A John Iafrate, et al.American Journal of Epidemiology|October 6, 2017
Incorporation of Biological Knowledge Into the Study of Gene-Environment InteractionsMarylyn D Ritchie, Joe R Davis, Hugues Aschard, et al.Human Mutation|March 3, 2017
Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsyKristin D Kernohan, Laure Frésard, Zachary Zappala, et al.Cell Reports|June 18, 2025
The evolutionarily conserved PRP4K-CHMP4B/vps32 splicing circuit regulates autophagySabateeshan Mathavarajah, Sandhya Chipurupalli, Elias B Habib, et al.Orphanet Journal of Rare Diseases|September 28, 2024
Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseasesClara D M van Karnebeek, Anne O'Donnell-Luria, Gareth Baynam, et al.Scientific Reports|March 24, 2017
PML nuclear bodies contribute to the basal expression of the mTOR inhibitor DDIT4Jayme Salsman, Alex Stathakis, Ellen Parker, et al.Cell|September 17, 2021
Genome-wide functional screen of 3'UTR variants uncovers causal variants for human disease and evolutionDustin Griesemer, James R Xue, Steven K Reilly, et al.Genome Research|March 20, 2025
Integration of transcriptomics and long-read genomics prioritizes structural variants in rare diseaseTanner D Jensen, Bohan Ni, Chloe M Reuter, et al.Pageof 22