Analysis of deletion breakpoints from 1,092 humans reveals details of mutation mechanisms
Published 2015 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Analysis of deletion breakpoints from 1,092 humans reveals details of mutation mechanisms
Authors
Keywords
-
Journal
Nature Communications
Volume 6, Issue 1, Pages -
Publisher
Springer Nature
Online
2015-06-01
DOI
10.1038/ncomms8256
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- TIGRA: A targeted iterative graph routing assembler for breakpoint assembly
- (2013) K. Chen et al. GENOME RESEARCH
- Replicative mechanisms for CNV formation are error prone
- (2013) Claudia M B Carvalho et al. NATURE GENETICS
- Organization of the Mitotic Chromosome
- (2013) N. Naumova et al. SCIENCE
- Comment on “Genomic Hypomethylation in the Human Germline Associates with Selective Structural Mutability in the Human Genome”
- (2013) Corey T. Watson et al. PLoS Genetics
- Differential Relationship of DNA Replication Timing to Different Forms of Human Mutation and Variation
- (2012) Amnon Koren et al. AMERICAN JOURNAL OF HUMAN GENETICS
- DELLY: structural variant discovery by integrated paired-end and split-read analysis
- (2012) T. Rausch et al. BIOINFORMATICS
- BreakFusion: targeted assembly-based identification of gene fusions in whole transcriptome paired-end sequencing data
- (2012) K. Chen et al. BIOINFORMATICS
- TrxG and PcG Proteins but Not Methylated Histones Remain Associated with DNA through Replication
- (2012) Svetlana Petruk et al. CELL
- Personal Omics Profiling Reveals Dynamic Molecular and Medical Phenotypes
- (2012) Rui Chen et al. CELL
- Mechanisms of Formation of Structural Variation in a Fully Sequenced Human Genome
- (2012) Andy Wing Chun Pang et al. HUMAN MUTATION
- Detecting and annotating genetic variations using the HugeSeq pipeline
- (2012) Hugo Y K Lam et al. NATURE BIOTECHNOLOGY
- Iterative correction of Hi-C data reveals hallmarks of chromosome organization
- (2012) Maxim Imakaev et al. NATURE METHODS
- Extrachromosomal MicroDNAs and Chromosomal Microdeletions in Normal Tissues
- (2012) Y. Shibata et al. SCIENCE
- Landscape of Somatic Retrotransposition in Human Cancers
- (2012) E. Lee et al. SCIENCE
- The NIH Roadmap Epigenomics Program data resource
- (2012) Lisa Helbling Chadwick Epigenomics
- Genomic Hypomethylation in the Human Germline Associates with Selective Structural Mutability in the Human Genome
- (2012) Jian Li et al. PLoS Genetics
- AGE: defining breakpoints of genomic structural variants at single-nucleotide resolution, through optimal alignments with gap excision
- (2011) Alexej Abyzov et al. BIOINFORMATICS
- Sperm Methylation Profiles Reveal Features of Epigenetic Inheritance and Evolution in Primates
- (2011) Antoine Molaro et al. CELL
- CNVnator: An approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing
- (2011) A. Abyzov et al. GENOME RESEARCH
- Mapping copy number variation by population-scale genome sequencing
- (2011) Ryan E. Mills et al. NATURE
- Discovery and genotyping of genome structural polymorphism by sequencing on a population scale
- (2011) Robert E Handsaker et al. NATURE GENETICS
- Extensive genomic and transcriptional diversity identified through massively parallel DNA and RNA sequencing of eighteen Korean individuals
- (2011) Young Seok Ju et al. NATURE GENETICS
- Structural Variation in the Human Genome and its Role in Disease
- (2010) Paweł Stankiewicz et al. Annual Review of Medicine
- Fast and accurate long-read alignment with Burrows–Wheeler transform
- (2010) Heng Li et al. BIOINFORMATICS
- A Human Genome Structural Variation Sequencing Resource Reveals Insights into Mutational Mechanisms
- (2010) Jeffrey M. Kidd et al. CELL
- Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls
- (2010) NATURE
- Functional impact of global rare copy number variation in autism spectrum disorders
- (2010) Dalila Pinto et al. NATURE
- Mutation spectrum revealed by breakpoint sequencing of human germline CNVs
- (2010) Donald F Conrad et al. NATURE GENETICS
- Towards a comprehensive structural variation map of an individual human genome
- (2010) Andy W Pang et al. GENOME BIOLOGY
- Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads
- (2009) K. Ye et al. BIOINFORMATICS
- Duplication hotspots, rare genomic disorders, and common disease
- (2009) Heather C Mefford et al. CURRENT OPINION IN GENETICS & DEVELOPMENT
- Extrachromosomal Circular DNA in Eukaryotes: Possible Involvement in the Plasticity of Tandem Repeats
- (2009) S. Cohen et al. CYTOGENETIC AND GENOME RESEARCH
- HapMap methylation-associated SNPs, markers of germline DNA methylation, positively correlate with regional levels of human meiotic recombination
- (2009) M. I. Sigurdsson et al. GENOME RESEARCH
- Origins and functional impact of copy number variation in the human genome
- (2009) Donald F. Conrad et al. NATURE
- Nucleotide-resolution analysis of structural variants using BreakSeq and a breakpoint library
- (2009) Hugo Y K Lam et al. NATURE BIOTECHNOLOGY
- Microduplications of 16p11.2 are associated with schizophrenia
- (2009) Shane E McCarthy et al. NATURE GENETICS
- The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans
- (2009) Feng Zhang et al. NATURE GENETICS
- BreakDancer: an algorithm for high-resolution mapping of genomic structural variation
- (2009) Ken Chen et al. NATURE METHODS
- Comprehensive Mapping of Long-Range Interactions Reveals Folding Principles of the Human Genome
- (2009) E. Lieberman-Aiden et al. SCIENCE
- Ultrafast and memory-efficient alignment of short DNA sequences to the human genome
- (2009) Ben Langmead et al. GENOME BIOLOGY
- Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease
- (2008) Steven A McCarroll et al. NATURE GENETICS
Create your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create NowAsk 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