Ontology highlight
ABSTRACT:
SUBMITTER: Iossifov I
PROVIDER: S-EPMC4313871 | biostudies-literature | 2014 Nov
REPOSITORIES: biostudies-literature
Iossifov Ivan I O'Roak Brian J BJ Sanders Stephan J SJ Ronemus Michael M Krumm Niklas N Levy Dan D Stessman Holly A HA Witherspoon Kali T KT Vives Laura L Patterson Karynne E KE Smith Joshua D JD Paeper Bryan B Nickerson Deborah A DA Dea Jeanselle J Dong Shan S Gonzalez Luis E LE Mandell Jeffrey D JD Mane Shrikant M SM Murtha Michael T MT Sullivan Catherine A CA Walker Michael F MF Waqar Zainulabedin Z Wei Liping L Willsey A Jeremy AJ Yamrom Boris B Lee Yoon-ha YH Grabowska Ewa E Dalkic Ertugrul E Wang Zihua Z Marks Steven S Andrews Peter P Leotta Anthony A Kendall Jude J Hakker Inessa I Rosenbaum Julie J Ma Beicong B Rodgers Linda L Troge Jennifer J Narzisi Giuseppe G Yoon Seungtai S Schatz Michael C MC Ye Kenny K McCombie W Richard WR Shendure Jay J Eichler Evan E EE State Matthew W MW Wigler Michael M
Nature 20141029 7526
Whole exome sequencing has proven to be a powerful tool for understanding the genetic architecture of human disease. Here we apply it to more than 2,500 simplex families, each having a child with an autistic spectrum disorder. By comparing affected to unaffected siblings, we show that 13% of de novo missense mutations and 43% of de novo likely gene-disrupting (LGD) mutations contribute to 12% and 9% of diagnoses, respectively. Including copy number variants, coding de novo mutations contribute t ...[more]