Litcius/Paper detail

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

2021The American Journal of Human Genetics120 citationsDOIOpen Access PDF

Topics & Concepts

BiologyGermlineGeneticsMutation rateGenomeGermline mutationPoint mutationStructural variationProbandMutationGeneGenomics and Rare DiseasesCRISPR and Genetic EngineeringGenomic variations and chromosomal abnormalities