Extremely rare variants reveal patterns of germline mutation rate heterogeneity in humans
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Title
Extremely rare variants reveal patterns of germline mutation rate heterogeneity in humans
Authors
Keywords
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Journal
Nature Communications
Volume 9, Issue 1, Pages -
Publisher
Springer Nature America, Inc
Online
2018-09-10
DOI
10.1038/s41467-018-05936-5
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Note: Only part of the references are listed.- Optimal sequencing strategies for identifying disease-associated singletons
- (2017) Sara Rashkin et al. PLoS Genetics
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- (2016) Dilmi Perera et al. NATURE
- 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
- The Nucleotide Excision Repair Pathway Limits L1 Retrotransposition
- (2016) Geraldine Servant et al. GENETICS
- An efficient and scalable analysis framework for variant extraction and refinement from population-scale DNA sequence data
- (2015) Goo Jun et al. GENOME RESEARCH
- Differential DNA mismatch repair underlies mutation rate variation across the human genome
- (2015) Fran Supek et al. NATURE
- Integrative analysis of 111 reference human epigenomes
- (2015) Anshul Kundaje et al. NATURE
- A global reference for human genetic variation
- (2015) Richard A. Gibbs et al. NATURE
- Genome-wide patterns and properties of de novo mutations in humans
- (2015) Laurent C Francioli et al. NATURE GENETICS
- Evidence for recent, population-specific evolution of the human mutation rate
- (2015) Kelley Harris PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Determinants of Mutation Rate Variation in the Human Germline
- (2014) Laure Ségurel et al. Annual Review of Genomics and Human Genetics
- Guidelines for investigating causality of sequence variants in human disease
- (2014) D. G. MacArthur et al. NATURE
- A general framework for estimating the relative pathogenicity of human genetic variants
- (2014) Martin Kircher et al. NATURE GENETICS
- A framework for the interpretation of de novo mutation in human disease
- (2014) Kaitlin E Samocha et al. NATURE GENETICS
- Understanding nucleotide excision repair and its roles in cancer and ageing
- (2014) Jurgen A. Marteijn et al. NATURE REVIEWS MOLECULAR CELL BIOLOGY
- The genomic psychiatry cohort: Partners in discovery
- (2013) Michele T. Pato et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
- The Histone Mark H3K36me3 Regulates Human DNA Mismatch Repair through Its Interaction with MutSα
- (2013) Feng Li et al. CELL
- The influence of genomic context on mutation patterns in the human genome inferred from rare variants
- (2013) V. M. Schaibley et al. GENOME RESEARCH
- Mutational heterogeneity in cancer and the search for new cancer-associated genes
- (2013) Michael S. Lawrence et al. NATURE
- Reduced local mutation density in regulatory DNA of cancer genomes is linked to DNA repair
- (2013) Paz Polak et al. NATURE BIOTECHNOLOGY
- Detecting and Estimating Contamination of Human DNA Samples in Sequencing and Array-Based Genotype Data
- (2012) Goo Jun et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Whole-Genome Sequencing in Autism Identifies Hot Spots for De Novo Germline Mutation
- (2012) Jacob J. Michaelson et al. CELL
- Chromatin organization is a major influence on regional mutation rates in human cancer cells
- (2012) Benjamin Schuster-Böckler et al. NATURE
- Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants
- (2012) Wenqing Fu et al. NATURE
- Rate of de novo mutations and the importance of father’s age to disease risk
- (2012) Augustine Kong et al. NATURE
- Summarizing and correcting the GC content bias in high-throughput sequencing
- (2012) Yuval Benjamini et al. NUCLEIC ACIDS RESEARCH
- An Abundance of Rare Functional Variants in 202 Drug Target Genes Sequenced in 14,002 People
- (2012) M. R. Nelson et al. SCIENCE
- The Minnesota Center for Twin and Family Research Genome-Wide Association Study
- (2012) Michael B. Miller et al. Twin Research and Human Genetics
- H3K4me3 inversely correlates with DNA methylation at a large class of non-CpG-island-containing start sites
- (2012) Dheepa Balasubramanian et al. Genome Medicine
- A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data
- (2011) H. Li BIOINFORMATICS
- New words in human mutagenesis
- (2011) Alexander Y Panchin et al. BMC BIOINFORMATICS
- Inference of human population history from individual whole-genome sequences
- (2011) Heng Li et al. NATURE
- Regions of focal DNA hypermethylation and long-range hypomethylation in colorectal cancer coincide with nuclear lamina–associated domains
- (2011) Benjamin P Berman et al. NATURE GENETICS
- A framework for variation discovery and genotyping using next-generation DNA sequencing data
- (2011) Mark A DePristo et al. NATURE GENETICS
- Fine-scale recombination rate differences between sexes, populations and individuals
- (2010) Augustine Kong et al. NATURE
- Biased Gene Conversion and the Evolution of Mammalian Genomic Landscapes
- (2009) Laurent Duret et al. Annual Review of Genomics and Human Genetics
- Measuring the Rates of Spontaneous Mutation From Deep and Large-Scale Polymorphism Data
- (2009) Philipp W. Messer GENETICS
- Intermediate: Cognitive phenotypes in bipolar disorder
- (2009) Scott A. Langenecker et al. JOURNAL OF AFFECTIVE DISORDERS
- Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry
- (2009) L. J. Scott et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Pervasive Hitchhiking at Coding and Regulatory Sites in Humans
- (2009) James J. Cai et al. PLoS Genetics
- Whole-genome association study of bipolar disorder
- (2008) P Sklar et al. MOLECULAR PSYCHIATRY
- Accurate whole human genome sequencing using reversible terminator chemistry
- (2008) David R. Bentley et al. NATURE
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