标题
T2T-YAO: A Telomere-to-telomere Assembled Diploid Reference Genome for Han Chinese
作者
关键词
-
出版物
GENOMICS PROTEOMICS & BIOINFORMATICS
Volume -, Issue -, Pages -
出版商
Elsevier BV
发表日期
2023-08-16
DOI
10.1016/j.gpb.2023.08.001
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- Jasmine and Iris: population-scale structural variant comparison and analysis
- (2023) Melanie Kirsche et al. NATURE METHODS
- Regulation of ribosomal RNA gene copy number, transcription and nucleolus organization in eukaryotes
- (2023) Yutaro Hori et al. NATURE REVIEWS MOLECULAR CELL BIOLOGY
- The first gapless, reference-quality, fully annotated genome from a Southern Han Chinese individual
- (2023) Kuan-Hao Chao et al. G3-Genes Genomes Genetics
- Recombination between heterologous human acrocentric chromosomes
- (2023) Andrea Guarracino et al. NATURE
- A pangenome reference of 36 Chinese populations
- (2023) Yang Gao et al. NATURE
- A draft human pangenome reference
- (2023) Wen-Wei Liao et al. NATURE
- Increased mutation and gene conversion within human segmental duplications
- (2023) Mitchell R. Vollger et al. NATURE
- Telomere-to-telomere assembly of diploid chromosomes with Verkko
- (2023) Mikko Rautiainen et al. NATURE BIOTECHNOLOGY
- Repetitive elements in aging and neurodegeneration
- (2023) Katie E. Copley et al. TRENDS IN GENETICS
- Fast characterization of segmental duplication structure in multiple genome assemblies
- (2022) Hamza Išerić et al. Algorithms for Molecular Biology
- Multiplex de Bruijn graphs enable genome assembly from long, high-fidelity reads
- (2022) Anton Bankevich et al. NATURE BIOTECHNOLOGY
- Merfin: improved variant filtering, assembly evaluation and polishing via k-mer validation
- (2022) Giulio Formenti et al. NATURE METHODS
- Chasing perfection: validation and polishing strategies for telomere-to-telomere genome assemblies
- (2022) Ann M. Mc Cartney et al. NATURE METHODS
- Long-read mapping to repetitive reference sequences using Winnowmap2
- (2022) Chirag Jain et al. NATURE METHODS
- Complete genomic and epigenetic maps of human centromeres
- (2022) Nicolas Altemose et al. SCIENCE
- Epigenetic patterns in a complete human genome
- (2022) Ariel Gershman et al. SCIENCE
- From telomere to telomere: The transcriptional and epigenetic state of human repeat elements
- (2022) Savannah J. Hoyt et al. SCIENCE
- A complete reference genome improves analysis of human genetic variation
- (2022) Sergey Aganezov et al. SCIENCE
- The complete sequence of a human genome
- (2022) Sergey Nurk et al. SCIENCE
- A next-generation human genome sequence
- (2022) Deanna M. Church SCIENCE
- Segmental duplications and their variation in a complete human genome
- (2022) Mitchell R. Vollger et al. SCIENCE
- Semi-automated assembly of high-quality diploid human reference genomes
- (2022) Erich D. Jarvis et al. NATURE
- GENCODE: reference annotation for the human and mouse genomes in 2023
- (2022) Adam Frankish et al. NUCLEIC ACIDS RESEARCH
- 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
- The human ribosomal DNA array is composed of highly homogenized tandem clusters
- (2021) Yutaro Hori et al. GENOME RESEARCH
- The Genome Sequence Archive Family: Toward Explosive Data Growth and Diverse Data Types
- (2021) Tingting Chen et al. GENOMICS PROTEOMICS & BIOINFORMATICS
- Genome Warehouse: A Public Repository Housing Genome-scale Data
- (2021) Meili Chen et al. GENOMICS PROTEOMICS & BIOINFORMATICS
- Haplotype-aware variant calling with PEPPER-Margin-DeepVariant enables high accuracy in nanopore long-reads
- (2021) Kishwar Shafin et al. NATURE METHODS
- Ancient genomes from northern China suggest links between subsistence changes and human migration
- (2020) Chao Ning et al. Nature Communications
- HiCanu: accurate assembly of segmental duplications, satellites, and allelic variants from high-fidelity long reads
- (2020) Sergey Nurk et al. GENOME RESEARCH
- Liftoff: accurate mapping of gene annotations
- (2020) Alaina Shumate et al. BIOINFORMATICS
- SVIM-asm: structural variant detection from haploid and diploid genome assemblies
- (2020) David Heller et al. BIOINFORMATICS
- Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome
- (2019) Aaron M. Wenger et al. NATURE BIOTECHNOLOGY
- Integrating Hi-C links with assembly graphs for chromosome-scale assembly
- (2019) Jay Ghurye et al. PLoS Computational Biology
- Whole Genome Analyses of Chinese Population and De Novo Assembly of A Northern Han Genome
- (2019) Zhenglin Du et al. GENOMICS PROTEOMICS & BIOINFORMATICS
- Mechanisms of rDNA Copy Number Maintenance
- (2019) Jonathan O. Nelson et al. TRENDS IN GENETICS
- Comparative Annotation Toolkit (CAT)—simultaneous clade and personal genome annotation
- (2018) Ian T. Fiddes et al. GENOME RESEARCH
- Nanopore sequencing and assembly of a human genome with ultra-long reads
- (2018) Miten Jain et al. NATURE BIOTECHNOLOGY
- A synthetic-diploid benchmark for accurate variant-calling evaluation
- (2018) Heng Li et al. NATURE METHODS
- Accurate detection of complex structural variations using single-molecule sequencing
- (2018) Fritz J. Sedlazeck et al. NATURE METHODS
- A universal SNP and small-indel variant caller using deep neural networks
- (2018) Ryan Poplin et al. NATURE BIOTECHNOLOGY
- Long-read sequence and assembly of segmental duplications
- (2018) Mitchell R. Vollger et al. NATURE METHODS
- Canu: scalable and accurate long-read assembly via adaptivek-mer weighting and repeat separation
- (2017) Sergey Koren et al. GENOME RESEARCH
- Genetic History of Xinjiang’s Uyghurs Suggests Bronze Age Multiple-Way Contacts in Eurasia
- (2017) Qidi Feng et al. MOLECULAR BIOLOGY AND EVOLUTION
- A time- and cost-effective strategy to sequence mammalian Y Chromosomes: an application to the de novo assembly of gorilla Y
- (2016) Marta Tomaszkiewicz et al. GENOME RESEARCH
- A global reference for human genetic variation
- (2015) Richard A. Gibbs et al. NATURE
- Narrowing the localization of the region breakpoint in most frequent Robertsonian translocations
- (2014) Malgorzata Jarmuz-Szymczak et al. CHROMOSOME RESEARCH
- Single haplotype assembly of the human genome from a hydatidiform mole
- (2014) Karyn Meltz Steinberg et al. GENOME RESEARCH
- RFMix: A Discriminative Modeling Approach for Rapid and Robust Local-Ancestry Inference
- (2013) Brian K. Maples et al. AMERICAN JOURNAL OF HUMAN GENETICS
- A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff
- (2012) Pablo Cingolani et al. FLY
- The origin, global distribution, and functional impact of the human 8p23 inversion polymorphism
- (2012) Maximilian P.A. Salm et al. GENOME RESEARCH
- Genome mapping on nanochannel arrays for structural variation analysis and sequence assembly
- (2012) Ernest T Lam et al. NATURE BIOTECHNOLOGY
- The Sequence Alignment/Map format and SAMtools
- (2009) H. Li et al. BIOINFORMATICS
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