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Human Molecular Genetics|January 8, 2011
Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13Minal Çalışkan, Jessica X Chong, Lawrence Uricchio, et al.Current Protocols in Bioinformatics|November 29, 2014
From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipelineGeraldine A Van der Auwera, Mauricio O Carneiro, Christopher Hartl, et al.Genome Biology|July 2, 2014
Human genomic regions with exceptionally high levels of population differentiation identified from 911 whole-genome sequencesVincenza Colonna, Qasim Ayub, Yuan Chen, et al.Nature Genetics|June 14, 2011
Variation in genome-wide mutation rates within and between human familiesDonald F Conrad, Jonathan E M Keebler, Mark A DePristo, et al.Nature Genetics|April 12, 2011
A framework for variation discovery and genotyping using next-generation DNA sequencing dataMark A DePristo, Eric Banks, Ryan Poplin, et al.The New England Journal of Medicine|October 15, 2010
Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemiaKiran Musunuru, James P Pirruccello, Ron Do, et al.Nature Biotechnology|August 14, 2019
Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genomeAaron M Wenger, Paul Peluso, William J Rowell, et al.Nature|January 6, 2022
RNA profiles reveal signatures of future health and disease in pregnancyMorten Rasmussen, Mitsu Reddy, Rory Nolan, et al.Nature Communications|April 8, 2025
Molecular subtyping of hypertensive disorders of pregnancyMichal A Elovitz, Elaine P S Gee, Nathaniel Delaney-Busch, et al.Science (New York, N.Y.)|February 21, 2012
A systematic survey of loss-of-function variants in human protein-coding genesDaniel G MacArthur, Suganthi Balasubramanian, Adam Frankish, et al.Pageof 5