De novo structural mutation rates and gamete-of-origin biases revealed through genome sequencing of 2,396 families
Authors:
Open Access
- 1 April 2021
- journal article
- research article
- Published by Elsevier in The American Journal of Human Genetics
- Vol. 108 (4) , 597-607
Abstract
No abstract availableKeywords
All Related Versions
Funding Information
- National Institute of General Medical Sciences (GM124355)
- National Human Genome Research Institute (HG009141)
- National Human Genome Research Institute (HG006693)
- New York Genome Center
- National Institutes of Health (388196)
- National Institutes of Health (573206)
- National Institutes of Health (HG008895)
- National Institutes of Health (GM059290)
- National Institutes of Health (HD081256)
- National Institutes of Health (HD096326)
- National Institutes of Health (GM118335)
- National Institutes of Health (MH115957)
- National Institutes of Health (HD099547)
- National Institutes of Health (K99DE026824)
- George S. and Dolores Dore Eccles Foundation
- Simons Foundation Autism Research Initiative
This publication has 73 references indexed in Scilit:
- DELLY: structural variant discovery by integrated paired-end and split-read analysisBioinformatics, 2012
- Rate of de novo mutations and the importance of father’s age to disease riskNature, 2012
- Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic BoundariesCell, 2012
- Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integrationNature Genetics, 2012
- cn.MOPS: mixture of Poissons for discovering copy number variations in next-generation sequencing data with a low false discovery rateNucleic Acids Research, 2012
- Frequency of Nonallelic Homologous Recombination Is Correlated with Length of Homology: Evidence that Ectopic Synapsis Precedes Ectopic Crossing-OverThe American Journal of Human Genetics, 2011
- Integrative genomics viewerNature Biotechnology, 2011
- Mutator phenotypes due to DNA replication infidelitySeminars in Cancer Biology, 2010
- Genome-wide mapping and assembly of structural variant breakpoints in the mouse genomeGenome Research, 2010
- Large recurrent microdeletions associated with schizophreniaNature, 2008