标题
Increased mutation and gene conversion within human segmental duplications
作者
关键词
-
出版物
NATURE
Volume 617, Issue 7960, Pages 325-334
出版商
Springer Science and Business Media LLC
发表日期
2023-05-11
DOI
10.1038/s41586-023-05895-y
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。- Gaps and complex structurally variant loci in phased genome assemblies
- (2023) David Porubsky et al. GENOME RESEARCH
- A draft human pangenome reference
- (2023) Wen-Wei Liao et al. NATURE
- Telomere-to-telomere assembly of diploid chromosomes with Verkko
- (2023) Mikko Rautiainen et al. NATURE BIOTECHNOLOGY
- Familial long-read sequencing increases yield of de novo mutations
- (2022) Michelle D. Noyes et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Complete genomic and epigenetic maps of human centromeres
- (2022) Nicolas Altemose et al. SCIENCE
- The complete sequence of a human genome
- (2022) Sergey Nurk et al. SCIENCE
- Segmental duplications and their variation in a complete human genome
- (2022) Mitchell R. Vollger et al. SCIENCE
- GAVISUNK: Genome assembly validation via inter-SUNK distances in Oxford Nanopore reads
- (2022) Philip C Dishuck et al. BIOINFORMATICS
- Semi-automated assembly of high-quality diploid human reference genomes
- (2022) Erich D. Jarvis et al. NATURE
- Transposable element subfamily annotation has a reproducibility problem
- (2021) Kaitlin M. Carey et al. Mobile DNA
- Haplotype-resolved de novo assembly using phased assembly graphs with hifiasm
- (2021) Haoyu Cheng et al. NATURE METHODS
- Haplotype-resolved diverse human genomes and integrated analysis of structural variation
- (2021) Peter Ebert et al. SCIENCE
- HTSlib: C library for reading/writing high-throughput sequencing data
- (2021) James K Bonfield et al. GigaScience
- Twelve years of SAMtools and BCFtools
- (2021) Petr Danecek et al. GigaScience
- The structure, function and evolution of a complete human chromosome 8
- (2021) Glennis A. Logsdon et al. NATURE
- Inferring evolutionary dynamics of mutation rates through the lens of mutation spectrum variation
- (2020) Jedidiah Carlson et al. CURRENT OPINION IN GENETICS & DEVELOPMENT
- Fully phased human genome assembly without parental data using single-cell strand sequencing and long reads
- (2020) David Porubsky et al. NATURE BIOTECHNOLOGY
- An open resource for accurately benchmarking small variant and reference calls
- (2019) Justin M. Zook et al. NATURE BIOTECHNOLOGY
- 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
- The ENCODE Blacklist: Identification of Problematic Regions of the Genome
- (2019) Haley M. Amemiya et al. Scientific Reports
- Minimap2: pairwise alignment for nucleotide sequences
- (2018) Heng Li BIOINFORMATICS
- Comparison of village dog and wolf genomes highlights the role of the neural crest in dog domestication
- (2018) Amanda L. Pendleton et al. BMC BIOLOGY
- Human-Specific NOTCH2NL Genes Affect Notch Signaling and Cortical Neurogenesis
- (2018) Ian T. Fiddes et al. CELL
- Altered TAOK2 activity causes autism-related neurodevelopmental and cognitive abnormalities through RhoA signaling
- (2018) Melanie Richter et al. MOLECULAR PSYCHIATRY
- 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
- A synthetic-diploid benchmark for accurate variant-calling evaluation
- (2018) Heng Li et al. NATURE METHODS
- GC content elevates mutation and recombination rates in the yeastSaccharomyces cerevisiae
- (2018) Denis A. Kiktev et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Transcriptional fates of human-specific segmental duplications in brain
- (2018) Max L. Dougherty et al. GENOME RESEARCH
- Frequent nonallelic gene conversion on the human lineage and its effect on the divergence of gene duplicates
- (2017) Arbel Harpak et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Estimating the human mutation rate from autozygous segments reveals population differences in human mutational processes
- (2017) Vagheesh M. Narasimhan et al. Nature Communications
- Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility
- (2016) Xander Nuttle et al. NATURE
- Schizophrenia risk from complex variation of complement component 4
- (2016) Aswin Sekar et al. NATURE
- Analysis of protein-coding genetic variation in 60,706 humans
- (2016) Monkol Lek et al. NATURE
- The hominoid-specific gene TBC1D3 promotes generation of basal neural progenitors and induces cortical folding in mice
- (2016) Xiang-Chun Ju et al. eLife
- Interlocus gene conversion explains at least 2.7 % of single nucleotide variants in human segmental duplications
- (2015) Beth L. Dumont BMC GENOMICS
- 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
- Non-crossover gene conversions show strong GC bias and unexpected clustering in humans
- (2015) Amy L Williams et al. eLife
- PDK1 decreases TACE-mediated α-secretase activity and promotes disease progression in prion and Alzheimer's diseases
- (2013) Mathéa Pietri et al. NATURE MEDICINE
- The Coalescent with Selection on Copy Number Variants
- (2011) K. M. Teshima et al. GENETICS
- The Rate and Tract Length of Gene Conversion between Duplicated Genes
- (2011) Sayaka P. Mansai et al. Genes
- Biased Gene Conversion and the Evolution of Mammalian Genomic Landscapes
- (2009) Laurent Duret et al. Annual Review of Genomics and Human Genetics
- The Sequence Alignment/Map format and SAMtools
- (2009) H. Li et al. BIOINFORMATICS
- Large-scale inference of the point mutational spectrum in human segmental duplications
- (2009) Sigve Nakken et al. BMC GENOMICS
Find the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
SearchAsk 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