TY  - JOUR
A1  - Kloosterman, Wigard P
A1  - Francioli, Laurent C
A1  - Hormozdiari, Fereydoun
A1  - Marschall, Tobias
A1  - Hehir-Kwa, Jayne Y
A1  - Abdellaoui, Abdel
A1  - Lameijer, Eric-Wubbo
A1  - Moed, Matthijs H
A1  - Koval, Vyacheslav
A1  - Renkens, Ivo
A1  - van Roosmalen, Markus J
A1  - Arp, Pascal
A1  - Karssen, Lennart C
A1  - Coe, Bradley P
A1  - Handsaker, Robert E
A1  - Suchiman, Eka D
A1  - Cuppen, Edwin
A1  - Thung, Djie T
A1  - McVey, Mitch
A1  - Wendl, Michael C
A1  - Uitterlinden, Andre
A1  - van Duijn, Cornelia M
A1  - Swertz, Morris
A1  - Wijmenga, Cisca
A1  - van Ommen, Gertjan
A1  - Slagboom, P. Eline
A1  - Boomsma, Dorret I
A1  - Schönhuth, Alexander
A1  - Eichler, Evan E
A1  - de Bakker, Paul I.W
A1  - Ye, Kai
A1  - Guryev, Victor
T1  - Characteristics of de novo structural changes in the human genome
Y1  - 2015/04/16 
JF  - Genome Research 
JO  - Genome Research 
DO  - 10.1101/gr.185041.114 
SP  - gr.185041.114 
UR  - http://genome.cshlp.org/content/early/2015/04/14/gr.185041.114.abstract 
N2  - 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 (1-20bp) and 0.16 SVs (>20bp) per generation. De novo structural changes affect on average 4.1kbp 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 non-uniform distribution of de novo SVs across offspring. These results reveal the importance of different mutational mechanisms to changes in human genome structure across generations. 
ER  -