Article
Characteristics of de novo structural changes in the human genome.
Genome research - 1 Jun 2015
Kloosterman Wigard P, Francioli Laurent C, Hormozdiari Fereydoun, Marschall Tobias, Hehir-Kwa Jayne Y, Abdellaoui Abdel, Lameijer Eric-Wubbo, Moed Matthijs H, Koval Vyacheslav, Renkens Ivo, van Roosmalen Markus J, Arp Pascal, Karssen Lennart C, Coe Bradley P, Handsaker Robert E, Suchiman Eka D, Cuppen Edwin, Thung Djie Tjwan, McVey Mitch, Wendl Michael C, Uitterlinden André, van Duijn Cornelia M, Swertz Morris A, Wijmenga Cisca, van Ommen GertJan B, Slagboom P Eline, Boomsma Dorret I, Schönhuth Alexander, Eichler Evan E, de Bakker Paul I W, Ye Kai, Guryev Victor
Abstract excerpt
Small insertions and deletions (indels) and large structural variations (SVs) are major contributors to human genetic diversity and disease. However, mutation rates and characteristics of de novo indels and SVs in the general population have remained largely unexplored. We report 332 validated de novo structural changes identified in whole genomes of 250 families, including complex indels, retrotransposon...
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