标题
Germline de novo mutation rates on exons versus introns in humans
作者
关键词
-
出版物
Nature Communications
Volume 11, Issue 1, Pages -
出版商
Springer Science and Business Media LLC
发表日期
2020-07-03
DOI
10.1038/s41467-020-17162-z
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- The repertoire of mutational signatures in human cancer
- (2020) Ludmil B. Alexandrov et al. NATURE
- Characterizing mutagenic effects of recombination through a sequence-level genetic map
- (2019) Bjarni V. Halldorsson et al. SCIENCE
- Overlooked roles of DNA damage and maternal age in generating human germline mutations
- (2019) Ziyue Gao et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Large, three-generation human families reveal post-zygotic mosaicism and variability in germline mutation accumulation
- (2019) Thomas A Sasani et al. eLife
- Germline de novo mutation clusters arise during oocyte aging in genomic regions with high double-strand-break incidence
- (2018) Jakob M. Goldmann et al. NATURE GENETICS
- Large scale variation in the rate of germ-line de novo mutation, base composition, divergence and diversity in humans
- (2018) Thomas C. A. Smith et al. PLoS Genetics
- Extremely rare variants reveal patterns of germline mutation rate heterogeneity in humans
- (2018) Jedidiah Carlson et al. Nature Communications
- Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder
- (2018) Joon-Yong An et al. SCIENCE
- Reduced mutation rate in exons due to differential mismatch repair
- (2017) Joan Frigola et al. NATURE GENETICS
- Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples
- (2017) Jack A Kosmicki et al. NATURE GENETICS
- Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
- (2017) Ryan K C Yuen et al. NATURE NEUROSCIENCE
- Differences between germline and somatic mutation rates in humans and mice
- (2017) Brandon Milholland et al. Nature Communications
- Fetal de novo mutations and preterm birth
- (2017) Jingjing Li et al. PLoS Genetics
- An expanded sequence context model broadly explains variability in polymorphism levels across the human genome
- (2016) Varun Aggarwala et al. NATURE GENETICS
- Parent-of-origin-specific signatures of de novo mutations
- (2016) Jakob M Goldmann et al. NATURE GENETICS
- Integrative analysis of 111 reference human epigenomes
- (2015) Anshul Kundaje et al. NATURE
- Genome-wide patterns and properties of de novo mutations in humans
- (2015) Laurent C Francioli et al. NATURE GENETICS
- Timing, rates and spectra of human germline mutation
- (2015) Raheleh Rahbari et al. NATURE GENETICS
- The contribution of de novo coding mutations to autism spectrum disorder
- (2014) Ivan Iossifov et al. NATURE
- The Histone Mark H3K36me3 Regulates Human DNA Mismatch Repair through Its Interaction with MutSα
- (2013) Feng Li et al. CELL
- Mutational heterogeneity in cancer and the search for new cancer-associated genes
- (2013) Michael S. Lawrence et al. NATURE
- Signatures of mutational processes in human cancer
- (2013) Ludmil B. Alexandrov et al. NATURE
- Mutational Processes Molding the Genomes of 21 Breast Cancers
- (2012) Serena Nik-Zainal et al. CELL
- GENCODE: The reference human genome annotation for The ENCODE Project
- (2012) J. Harrow et al. GENOME RESEARCH
- Chromatin organization is a major influence on regional mutation rates in human cancer cells
- (2012) Benjamin Schuster-Böckler et al. NATURE
- Patterns and rates of exonic de novo mutations in autism spectrum disorders
- (2012) Benjamin M. Neale et al. NATURE
- De novo mutations revealed by whole-exome sequencing are strongly associated with autism
- (2012) Stephan J. Sanders et al. NATURE
- Fast Computation and Applications of Genome Mappability
- (2012) Thomas Derrien et al. PLoS One
- SNPs Occur in Regions with Less Genomic Sequence Conservation
- (2011) John C. Castle PLoS One
- Rate, molecular spectrum, and consequences of human mutation
- (2010) M. Lynch PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Regulation of Alternative Splicing by Histone Modifications
- (2010) R. F. Luco et al. SCIENCE
- Human mutation rate associated with DNA replication timing
- (2009) John A Stamatoyannopoulos et al. NATURE GENETICS
- Nucleosome positioning as a determinant of exon recognition
- (2009) Hagen Tilgner et al. NATURE STRUCTURAL & MOLECULAR BIOLOGY
Become a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get StartedAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started