De novo structural mutation rates and gamete-of-origin biases revealed through genome sequencing of 2,396 families
Jonathan R. Belyeu, Harrison Brand, Harold Wang, Xuefang Zhao, Brent S. Pedersen, Julie Feusier, Meenal Gupta, Thomas J. Nicholas, Joseph Brown, Lisa Baird, Bernie Devlin, Stephan Sanders, Lynn B. Jorde, Michael E. Talkowski, Aaron R. Quinlan
Topics & Concepts
BiologyGermlineGeneticsMutation rateGenomeGermline mutationPoint mutationStructural variationProbandMutationGeneGenomics and Rare DiseasesCRISPR and Genetic EngineeringGenomic variations and chromosomal abnormalities