标题
The complete sequence of a human Y chromosome
作者
关键词
-
出版物
NATURE
Volume 621, Issue 7978, Pages 344-354
出版商
Springer Science and Business Media LLC
发表日期
2023-08-24
DOI
10.1038/s41586-023-06457-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。- Jasmine and Iris: population-scale structural variant comparison and analysis
- (2023) Melanie Kirsche et al. NATURE METHODS
- 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
- Accurate sequencing of DNA motifs able to form alternative (non-B) structures
- (2023) Matthias H. Weissensteiner et al. GENOME RESEARCH
- Assembly of 43 human Y chromosomes reveals extensive complexity and variation
- (2023) Pille Hallast et al. NATURE
- Multiscale analysis of pangenomes enables improved representation of genomic diversity for repetitive and clinically relevant genes
- (2023) Chen-Shan Chin et al. NATURE METHODS
- StainedGlass: interactive visualization of massive tandem repeat structures with identity heatmaps
- (2022) Mitchell R Vollger et al. BIOINFORMATICS
- Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders
- (2022) David Porubsky et al. CELL
- Y-SNP Haplogroup Hierarchy Finder: a web tool for Y-SNP haplogroup assignment
- (2022) Bill Tseng et al. JOURNAL OF HUMAN GENETICS
- The Human Pangenome Project: a global resource to map genomic diversity
- (2022) Ting Wang et al. NATURE
- 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
- Segmental duplications and their variation in a complete human genome
- (2022) Mitchell R. Vollger et al. SCIENCE
- A classical revival: Human satellite DNAs enter the genomics era
- (2022) Nicolas Altemose SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
- The human “contaminome”: bacterial, viral, and computational contamination in whole genome sequences from 1000 families
- (2022) Brianna Chrisman et al. Scientific Reports
- A Map of 3′ DNA Transduction Variants Mediated by Non-LTR Retroelements on 3202 Human Genomes
- (2022) Reza Halabian et al. Biology-Basel
- High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios
- (2022) Marta Byrska-Bishop et al. CELL
- Whole-genome sequence and assembly of the Javan gibbon (Hylobates moloch)
- (2022) Merly Escalona et al. JOURNAL OF HEREDITY
- Semi-automated assembly of high-quality diploid human reference genomes
- (2022) Erich D. Jarvis et al. NATURE
- Fast and accurate mapping of long reads to complete genome assemblies with VerityMap
- (2022) Andrey V. Bzikadze et al. GENOME RESEARCH
- The Dfam community resource of transposable element families, sequence models, and genome annotations
- (2021) Jessica Storer et al. Mobile DNA
- Haplotype-resolved diverse human genomes and integrated analysis of structural variation
- (2021) Peter Ebert et al. SCIENCE
- 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
- Towards complete and error-free genome assemblies of all vertebrate species
- (2021) Arang Rhie et al. NATURE
- nf-LO: A Scalable, Containerized Workflow for Genome-to-Genome Lift Over
- (2021) Andrea Talenti et al. Genome Biology and Evolution
- Haplotype-aware variant calling with PEPPER-Margin-DeepVariant enables high accuracy in nanopore long-reads
- (2021) Kishwar Shafin et al. NATURE METHODS
- The mutational constraint spectrum quantified from variation in 141,456 humans
- (2020) Konrad J. Karczewski et al. NATURE
- Nanopore sequencing and the Shasta toolkit enable efficient de novo assembly of eleven human genomes
- (2020) Kishwar Shafin et al. NATURE BIOTECHNOLOGY
- Size-dependent antirecombinogenic effect of short spacers on palindrome recombinogenicity
- (2020) Marina Svetec Miklenić et al. DNA REPAIR
- Telomere-to-telomere assembly of a complete human X chromosome
- (2020) Karen H. Miga et al. NATURE
- 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
- Simultaneous profiling of chromatin accessibility and methylation on human cell lines with nanopore sequencing
- (2020) Isac Lee et al. NATURE METHODS
- GENCODE 2021
- (2020) Adam Frankish et al. NUCLEIC ACIDS RESEARCH
- Identifying centromeric satellites with dna-brnn
- (2019) Heng Li BIOINFORMATICS
- Human contamination in bacterial genomes has created thousands of spurious proteins
- (2019) Florian P. Breitwieser et al. GENOME RESEARCH
- Assembly of long, error-prone reads using repeat graphs
- (2019) Mikhail Kolmogorov et al. NATURE BIOTECHNOLOGY
- Identifying, understanding, and correcting technical artifacts on the sex chromosomes in next-generation sequencing data
- (2019) Timothy H Webster et al. GigaScience
- breakpointR: an R/Bioconductor package to localize strand state changes in Strand-seq data
- (2019) David Porubsky 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
- Dosage regulation, and variation in gene expression and copy number of human Y chromosome ampliconic genes
- (2019) Rahulsimham Vegesna et al. PLoS Genetics
- Kalign 3: multiple sequence alignment of large datasets
- (2019) Timo Lassmann BIOINFORMATICS
- ClinVar: improvements to accessing data
- (2019) Melissa J Landrum et al. NUCLEIC ACIDS RESEARCH
- Single-cell analysis of structural variations and complex rearrangements with tri-channel processing
- (2019) Ashley D. Sanders et al. NATURE BIOTECHNOLOGY
- Minimap2: pairwise alignment for nucleotide sequences
- (2018) Heng Li BIOINFORMATICS
- OUP accepted manuscript
- (2018) 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
- Comparative Annotation Toolkit (CAT)—simultaneous clade and personal genome annotation
- (2018) Ian T. Fiddes et al. GENOME RESEARCH
- Non-B-Form DNA Is Enriched at Centromeres
- (2018) Sivakanthan Kasinathan et al. MOLECULAR BIOLOGY AND EVOLUTION
- Nanopore sequencing and assembly of a human genome with ultra-long reads
- (2018) Miten Jain et al. NATURE BIOTECHNOLOGY
- Linear assembly of a human centromere on the Y chromosome
- (2018) Miten Jain et al. NATURE BIOTECHNOLOGY
- Accurate detection of complex structural variations using single-molecule sequencing
- (2018) Fritz J. Sedlazeck et al. NATURE METHODS
- MUMmer4: A fast and versatile genome alignment system
- (2018) Guillaume Marçais et al. PLoS Computational Biology
- Selection Has Countered High Mutability to Preserve the Ancestral Copy Number of Y Chromosome Amplicons in Diverse Human Lineages
- (2018) Levi S. Teitz et al. AMERICAN JOURNAL OF HUMAN GENETICS
- A universal SNP and small-indel variant caller using deep neural networks
- (2018) Ryan Poplin et al. NATURE BIOTECHNOLOGY
- De novo assembly of haplotype-resolved genomes with trio binning
- (2018) Sergey Koren et al. NATURE BIOTECHNOLOGY
- The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019
- (2018) Annalisa Buniello et al. NUCLEIC ACIDS RESEARCH
- Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly
- (2017) Valerie A. Schneider et al. GENOME RESEARCH
- Short inverted repeats contribute to localized mutability in human somatic cells
- (2017) Xueqing Zou et al. NUCLEIC ACIDS RESEARCH
- ClinVar: improving access to variant interpretations and supporting evidence
- (2017) Melissa J Landrum et al. NUCLEIC ACIDS RESEARCH
- An efficient targeted nuclease strategy for high-resolution mapping of DNA binding sites
- (2017) Peter J Skene et al. eLife
- Machine learning model for sequence-driven DNA G-quadruplex formation
- (2017) Aleksandr B. Sahakyan et al. Scientific Reports
- The Simons Genome Diversity Project: 300 genomes from 142 diverse populations
- (2016) Swapan Mallick et al. NATURE
- Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences
- (2016) G David Poznik et al. NATURE GENETICS
- deepTools2: a next generation web server for deep-sequencing data analysis
- (2016) Fidel Ramírez et al. NUCLEIC ACIDS RESEARCH
- Ensembl 2017
- (2016) Bronwen L. Aken et al. NUCLEIC ACIDS RESEARCH
- Simulating Next-Generation Sequencing Datasets from Empirical Mutation and Sequencing Models
- (2016) Zachary D. Stephens et al. PLoS One
- Extensive sequencing of seven human genomes to characterize benchmark reference materials
- (2016) Justin M. Zook et al. Scientific Data
- RAxML version 8: a tool for phylogenetic analysis and post-analysis of large phylogenies
- (2014) Alexandros Stamatakis BIOINFORMATICS
- Centromere reference models for human chromosomes X and Y satellite arrays
- (2014) K. H. Miga et al. GENOME RESEARCH
- Origins and functional evolution of Y chromosomes across mammals
- (2014) Diego Cortez et al. NATURE
- Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls
- (2014) Justin M Zook et al. NATURE BIOTECHNOLOGY
- Genomic Characterization of Large Heterochromatic Gaps in the Human Genome Assembly
- (2014) Nicolas Altemose et al. PLoS Computational Biology
- nhmmer: DNA homology search with profile HMMs
- (2013) T. J. Wheeler et al. BIOINFORMATICS
- CrossMap: a versatile tool for coordinate conversion between genome assemblies
- (2013) Hao Zhao et al. BIOINFORMATICS
- MAFFT Multiple Sequence Alignment Software Version 7: Improvements in Performance and Usability
- (2013) K. Katoh et al. MOLECULAR BIOLOGY AND EVOLUTION
- RefSeq: an update on mammalian reference sequences
- (2013) Kim D. Pruitt et al. NUCLEIC ACIDS RESEARCH
- The NHGRI GWAS Catalog, a curated resource of SNP-trait associations
- (2013) Danielle Welter et al. NUCLEIC ACIDS RESEARCH
- Sequencing Y Chromosomes Resolves Discrepancy in Time to Common Ancestor of Males Versus Females
- (2013) G. D. Poznik et al. SCIENCE
- DNA template strand sequencing of single-cells maps genomic rearrangements at high resolution
- (2012) Ester Falconer et al. NATURE METHODS
- Fast gapped-read alignment with Bowtie 2
- (2012) Ben Langmead et al. NATURE METHODS
- Pybedtools: a flexible Python library for manipulating genomic datasets and annotations
- (2011) Ryan K. Dale et al. BIOINFORMATICS
- Interactive metagenomic visualization in a Web browser
- (2011) Brian D Ondov et al. BMC BIOINFORMATICS
- Integrative genomics viewer
- (2011) James T Robinson et al. NATURE BIOTECHNOLOGY
- An Exceptional Gene: Evolution of the TSPY Gene Family in Humans and Other Great Apes
- (2011) Yali Xue et al. Genes
- BEDTools: a flexible suite of utilities for comparing genomic features
- (2010) Aaron R. Quinlan et al. BIOINFORMATICS
- The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
- (2010) A. McKenna et al. GENOME RESEARCH
- mrsFAST: a cache-oblivious algorithm for short-read mapping
- (2010) Faraz Hach et al. NATURE METHODS
- Fast and accurate short read alignment with Burrows-Wheeler transform
- (2009) H. Li et al. BIOINFORMATICS
- Copy number variation on the human Y chromosome
- (2009) M.A. Jobling CYTOGENETIC AND GENOME RESEARCH
- Extended Y chromosome haplotypes resolve multiple and unique lineages of the Jewish priesthood
- (2009) Michael F. Hammer et al. HUMAN GENETICS
- Using native and syntenically mapped cDNA alignments to improve de novo gene finding
- (2008) Mario Stanke et al. BIOINFORMATICS
- Splign: algorithms for computing spliced alignments with identification of paralogs
- (2008) Yuri Kapustin et al. Biology Direct
- Analysis of the largest tandemly repeated DNA families in the human genome
- (2008) Peter E Warburton et al. BMC GENOMICS
- DupMasker: A tool for annotating primate segmental duplications
- (2008) Z. Jiang et al. GENOME RESEARCH
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreAdd your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload Now