@article{Kloosterman01062015,
author = {Kloosterman, Wigard P. and Francioli, Laurent C. and Hormozdiari, Fereydoun and Marschall, Tobias and Hehir-Kwa, Jayne Y. and Abdellaoui, Abdel and Lameijer, Eric-Wubbo and Moed, Matthijs H. and Koval, Vyacheslav and Renkens, Ivo and van Roosmalen, Markus J. and Arp, Pascal and Karssen, Lennart C. and Coe, Bradley P. and Handsaker, Robert E. and Suchiman, Eka D. and Cuppen, Edwin and Thung, Djie Tjwan and McVey, Mitch and Wendl, Michael C. and Genome of the Netherlands Consortium and Uitterlinden, André and van Duijn, Cornelia M. and Swertz, Morris A. and Wijmenga, Cisca and van Ommen, GertJan B. and Slagboom, P. Eline and Boomsma, Dorret I. and Schönhuth, Alexander and Eichler, Evan E. and de Bakker, Paul I.W. and Ye, Kai and Guryev, Victor}, 
title = {Characteristics of de novo structural changes in the human genome},
volume = {25}, 
number = {6}, 
pages = {792-801}, 
year = {2015}, 
doi = {10.1101/gr.185041.114}, 
abstract ={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 insertions, and interchromosomal events. These data indicate a mutation rate of 2.94 indels (1–20 bp) and 0.16 SVs (>20 bp) per generation. De novo structural changes affect on average 4.1 kbp of genomic sequence and 29 coding bases per generation, which is 91 and 52 times more nucleotides than de novo substitutions, respectively. This contrasts with the equal genomic footprint of inherited SVs and substitutions. An excess of structural changes originated on paternal haplotypes. Additionally, we observed a nonuniform distribution of de novo SVs across offspring. These results reveal the importance of different mutational mechanisms to changes in human genome structure across generations.}, 
URL = {http://genome.cshlp.org/content/25/6/792.abstract}, 
eprint = {http://genome.cshlp.org/content/25/6/792.full.pdf+html}, 
journal = {Genome Research} 
}