Article
Diversity in non-repetitive human sequences not found in the reference genome.
Nature genetics - 1 Apr 2017
Kehr Birte, Helgadottir Anna, Melsted Pall, Jonsson Hakon, Helgason Hannes, Jonasdottir Adalbjörg, Jonasdottir Aslaug, Sigurdsson Asgeir, Gylfason Arnaldur, Halldorsson Gisli H, Kristmundsdottir Snaedis, Thorgeirsson Gudmundur, Olafsson Isleifur, Holm Hilma, Thorsteinsdottir Unnur, Sulem Patrick, Helgason Agnar, Gudbjartsson Daniel F, Halldorsson Bjarni V, Stefansson Kari
Abstract excerpt
Genomes usually contain some non-repetitive sequences that are missing from the reference genome and occur only in a population subset. Such non-repetitive, non-reference (NRNR) sequences have remained largely unexplored in terms of their characterization and downstream analyses. Here we describe 3,791 breakpoint-resolved NRNR sequence variants called using PopIns from whole-genome sequence data of 15,219...
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