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Proceedings of the National Academy of Sciences of the United States of America|March 20, 2013
The human gene connectome as a map of short cuts for morbid allele discoveryYuval Itan, Shen-Ying Zhang, Guillaume Vogt, et al.BMC Bioinformatics|March 22, 2013
Protein function prediction by massive integration of evolutionary analyses and multiple data sourcesDomenico Cozzetto, Daniel W A Buchan, Kevin Bryson, et al.Circulation. Genomic and Precision Medicine|July 6, 2021
Burden of Cardiomyopathic Genetic Variation in Lethal Pediatric MyocarditisAmy R Kontorovich, Yingying Tang, Nihir Patel, et al.Proceedings. Biological Sciences|April 13, 2006
Evaluating bacterial pathogen DNA preservation in museum osteological collectionsIan Barnes, Mark G ThomasBMC Genomics|April 4, 2014
HGCS: an online tool for prioritizing disease-causing gene variants by biological distanceYuval Itan, Mark Mazel, Benjamin Mazel, et al.NPJ Drug Discovery|October 6, 2025
Genetic evidence informs the direction of therapeutic modulation in drug developmentRobert Chen, Áine Duffy, Joshua K Park, et al.Nature Communications|November 28, 2025
Expanding the utility of variant effect predictions with phenotype-specific modelsDavid Stein, Meltem Ece Kars, Baptiste Milisavljevic, et al.Nature Communications|September 30, 2025
Development of a genetic priority score to predict drug side effects using human genetic evidenceÁine Duffy, Robert Chen, David Stein, et al.Plos One|March 9, 2013
A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial diseaseXiao-Fei Kong, Aziz Bousfiha, Abdelfettah Rouissi, et al.The Journal of Allergy and Clinical Immunology|October 11, 2016
Exome and genome sequencing for inborn errors of immunityIsabelle Meyts, Barbara Bosch, Alexandre Bolze, et al.Pageof 30