Article
Familial long-read sequencing increases yield of de novo mutations.
American journal of human genetics - 7 Apr 2022
Noyes Michelle D, Harvey William T, Porubsky David, Sulovari Arvis, Li Ruiyang, Rose Nicholas R, Audano Peter A, Munson Katherine M, Lewis Alexandra P, Hoekzema Kendra, Mantere Tuomo, Graves-Lindsay Tina A, Sanders Ashley D, Goodwin Sara, Kramer Melissa, Mokrab Younes, Zody Michael C, Hoischen Alexander, Korbel Jan O, McCombie W Richard, Eichler Evan E
Abstract excerpt
Studies of de novo mutation (DNM) have typically excluded some of the most repetitive and complex regions of the genome because these regions cannot be unambiguously mapped with short-read sequencing data. To better understand the genome-wide pattern of DNM, we generated long-read sequence data from an autism parent-child quad with an affected female where no pathogenic variant had been discovered in short-read...
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