标题
Towards population-scale long-read sequencing
作者
关键词
-
出版物
NATURE REVIEWS GENETICS
Volume 22, Issue 9, Pages 572-587
出版商
Springer Science and Business Media LLC
发表日期
2021-05-28
DOI
10.1038/s41576-021-00367-3
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。- 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
- Genome assembly and population genomic analysis provide insights into the evolution of modern sweet corn
- (2021) Ying Hu et al. Nature Communications
- Shotgun transcriptome, spatial omics, and isothermal profiling of SARS-CoV-2 infection reveals unique host responses, viral diversification, and drug interactions
- (2021) Daniel Butler et al. Nature Communications
- Correction: Long-read trio sequencing of individuals with unsolved intellectual disability
- (2021) Marc Pauper et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Optimized sample selection for cost-efficient long-read population sequencing
- (2021) T. Rhyker Ranallo-Benavidez et al. GENOME RESEARCH
- The structure, function and evolution of a complete human chromosome 8
- (2021) Glennis A. Logsdon et al. NATURE
- Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data
- (2020) Xiao Chen et al. GENETICS IN MEDICINE
- Targeted nanopore sequencing with Cas9-guided adapter ligation
- (2020) Timothy Gilpatrick et al. NATURE BIOTECHNOLOGY
- Pan-genomics in the human genome era
- (2020) Rachel M. Sherman et al. NATURE REVIEWS GENETICS
- Chromosome-level assemblies of multiple Arabidopsis genomes reveal hotspots of rearrangements with altered evolutionary dynamics
- (2020) Wen-Biao Jiao et al. Nature Communications
- SVJedi: Genotyping structural variations with long reads
- (2020) Lolita Lecompte et al. BIOINFORMATICS
- Linked‐read sequencing enables haplotype‐resolved resequencing at population scale
- (2020) Dave Lutgen et al. Molecular Ecology Resources
- Nanopore sequencing and the Shasta toolkit enable efficient de novo assembly of eleven human genomes
- (2020) Kishwar Shafin et al. NATURE BIOTECHNOLOGY
- Increased burden of ultra-rare structural variants localizing to boundaries of topologically associated domains in schizophrenia
- (2020) Matthew Halvorsen et al. Nature Communications
- Pan-Genome of Wild and Cultivated Soybeans
- (2020) Yucheng Liu et al. CELL
- Major Impacts of Widespread Structural Variation on Gene Expression and Crop Improvement in Tomato
- (2020) Michael Alonge et al. CELL
- Inclusion of Oxford Nanopore long reads improves all microbial and viral metagenome‐assembled genomes from a complex aquifer system
- (2020) Will A. Overholt et al. ENVIRONMENTAL MICROBIOLOGY
- Improved structural variant interpretation for hereditary cancer susceptibility using long-read sequencing
- (2020) My Linh Thibodeau et al. GENETICS IN MEDICINE
- Evolutionary genomics of structural variation in Asian rice (Oryza sativa) domestication
- (2020) Yixuan Kou et al. MOLECULAR BIOLOGY AND EVOLUTION
- Telomere-to-telomere assembly of a complete human X chromosome
- (2020) Karen H. Miga et al. NATURE
- A robust benchmark for detection of germline large deletions and insertions
- (2020) Justin M. Zook et al. NATURE BIOTECHNOLOGY
- Long-read human genome sequencing and its applications
- (2020) Glennis A. Logsdon et al. NATURE REVIEWS GENETICS
- Long‐read sequencing reveals widespread intragenic structural variants in a recent allopolyploid crop plant
- (2020) Harmeet Singh Chawla et al. PLANT BIOTECHNOLOGY JOURNAL
- Discovery and population genomics of structural variation in a songbird genus
- (2020) Matthias H. Weissensteiner et al. Nature Communications
- A pipeline for complete characterization of complex germline rearrangements from long DNA reads
- (2020) Satomi Mitsuhashi et al. Genome Medicine
- Regional sequence expansion or collapse in heterozygous genome assemblies
- (2020) Kathryn C. Asalone et al. PLoS Computational Biology
- PhaseME: Automatic rapid assessment of phasing quality and phasing improvement
- (2020) Sina Majidian et al. GigaScience
- A Survey of Rare Epigenetic Variation in 23,116 Human Genomes Identifies Disease-Relevant Epivariations and CGG Expansions
- (2020) Paras Garg et al. AMERICAN JOURNAL OF HUMAN GENETICS
- HiCanu: accurate assembly of segmental duplications, satellites, and allelic variants from high-fidelity long reads
- (2020) Sergey Nurk et al. GENOME RESEARCH
- metaFlye: scalable long-read metagenome assembly using repeat graphs
- (2020) Mikhail Kolmogorov et al. NATURE METHODS
- TRiCoLOR: tandem repeat profiling using whole-genome long-read sequencing data
- (2020) Davide Bolognini et al. GigaScience
- Impact of lossy compression of nanopore raw signal data on basecalling and consensus accuracy
- (2020) Shubham Chandak et al. BIOINFORMATICS
- SVIM-asm: structural variant detection from haploid and diploid genome assemblies
- (2020) David Heller et al. BIOINFORMATICS
- Targeted nanopore sequencing by real-time mapping of raw electrical signal with UNCALLED
- (2020) Sam Kovaka et al. NATURE BIOTECHNOLOGY
- Readfish enables targeted nanopore sequencing of gigabase-sized genomes
- (2020) Alexander Payne et al. NATURE BIOTECHNOLOGY
- Chromosome-scale, haplotype-resolved assembly of human genomes
- (2020) Shilpa Garg et al. NATURE BIOTECHNOLOGY
- Fully phased human genome assembly without parental data using single-cell strand sequencing and long reads
- (2020) David Porubsky et al. NATURE BIOTECHNOLOGY
- Simultaneous profiling of chromatin accessibility and methylation on human cell lines with nanopore sequencing
- (2020) Isac Lee et al. NATURE METHODS
- Improved high-molecular-weight DNA extraction, nanopore sequencing and metagenomic assembly from the human gut microbiome
- (2020) Dylan G. Maghini et al. Nature Protocols
- Scalable multiple whole-genome alignment and locally collinear block construction with SibeliaZ
- (2020) Ilia Minkin et al. Nature Communications
- Evaluation of Single-Molecule Sequencing Technologies for Structural Variant Detection in Two Swedish Human Genomes
- (2020) Nazeefa Fatima et al. Genes
- SVIM: Structural Variant Identification using Mapped Long Reads
- (2019) David Heller et al. BIOINFORMATICS
- Characterizing the Major Structural Variant Alleles of the Human Genome
- (2019) Peter A. Audano et al. CELL
- Fast and accurate genomic analyses using genome graphs
- (2019) Goran Rakocevic et al. NATURE GENETICS
- A High-Quality De novo Genome Assembly from a Single Mosquito Using PacBio Sequencing
- (2019) Sarah Kingan et al. Genes
- Evaluation of the detection of GBA missense mutations and other variants using the Oxford Nanopore MinION
- (2019) Melissa Leija-Salazar et al. Molecular Genetics & Genomic Medicine
- Genome maps across 26 human populations reveal population-specific patterns of structural variation
- (2019) Michal Levy-Sakin et al. Nature Communications
- Newest Methods for Detecting Structural Variations
- (2019) Wouter De Coster et al. TRENDS IN BIOTECHNOLOGY
- Ancestral admixture is the main determinant of global biodiversity in fission yeast
- (2019) Sergio Tusso et al. MOLECULAR BIOLOGY AND EVOLUTION
- Assembly of long, error-prone reads using repeat graphs
- (2019) Mikhail Kolmogorov et al. NATURE BIOTECHNOLOGY
- Capturing the dynamics of genome replication on individual ultra-long nanopore sequence reads
- (2019) Carolin A. Müller et al. NATURE METHODS
- Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease
- (2019) Jun Sone et al. NATURE GENETICS
- Multi-platform discovery of haplotype-resolved structural variation in human genomes
- (2019) Mark J. P. Chaisson et al. Nature Communications
- The presence and impact of reference bias on population genomic studies of prehistoric human populations
- (2019) Torsten Günther et al. PLoS Genetics
- Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome
- (2019) Aaron M. Wenger et al. NATURE BIOTECHNOLOGY
- Evaluation of computational genotyping of structural variation for clinical diagnoses
- (2019) Varuna Chander et al. GigaScience
- Latest techniques to study DNA methylation
- (2019) Quentin Gouil et al. Essays in Biochemistry
- Structural variation in the sequencing era
- (2019) Steve S. Ho et al. NATURE REVIEWS GENETICS
- Longshot enables accurate variant calling in diploid genomes from single-molecule long read sequencing
- (2019) Peter Edge et al. Nature Communications
- Structural variants exhibit widespread allelic heterogeneity and shape variation in complex traits
- (2019) Mahul Chakraborty et al. Nature Communications
- GraphTyper2 enables population-scale genotyping of structural variation using pangenome graphs
- (2019) Hannes P. Eggertsson et al. Nature Communications
- Evaluation of 16S rRNA gene sequencing for species and strain-level microbiome analysis
- (2019) Jethro S. Johnson et al. Nature Communications
- Shotgun metagenome data of a defined mock community using Oxford Nanopore, PacBio and Illumina technologies
- (2019) Volkan Sevim et al. Scientific Data
- Critical assessment of bioinformatics methods for the characterization of pathological repeat expansions with single-molecule sequencing data
- (2019) Matteo Chiara et al. BRIEFINGS IN BIOINFORMATICS
- Assessing the performance of genome-wide association studies for predicting disease risk
- (2019) Jonas Patron et al. PLoS One
- AnnotSV: an integrated tool for structural variations annotation
- (2018) Véronique Geoffroy et al. BIOINFORMATICS
- Minimap2: pairwise alignment for nucleotide sequences
- (2018) Heng Li BIOINFORMATICS
- NanoPack: visualizing and processing long-read sequencing data
- (2018) Wouter De Coster et al. BIOINFORMATICS
- OUP accepted manuscript
- (2018) BIOINFORMATICS
- 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
- Piercing the dark matter: bioinformatics of long-range sequencing and mapping
- (2018) Fritz J. Sedlazeck et al. NATURE REVIEWS GENETICS
- SV-plaudit: A cloud-based framework for manually curating thousands of structural variants
- (2018) Jonathan R Belyeu et al. GigaScience
- How complete are “complete” genome assemblies?-An avian perspective
- (2018) Valentina Peona et al. Molecular Ecology Resources
- Variation graph toolkit improves read mapping by representing genetic variation in the reference
- (2018) Erik Garrison et al. NATURE BIOTECHNOLOGY
- A universal SNP and small-indel variant caller using deep neural networks
- (2018) Ryan Poplin et al. NATURE BIOTECHNOLOGY
- Pushing the limits of de novo genome assembly for complex prokaryotic genomes harboring very long, near identical repeats
- (2018) Michael Schmid et al. NUCLEIC ACIDS RESEARCH
- BulkVis: a graphical viewer for Oxford nanopore bulk FAST5 files
- (2018) Alexander Payne et al. BIOINFORMATICS
- Assembly of a pan-genome from deep sequencing of 910 humans of African descent
- (2018) Rachel M. Sherman et al. NATURE GENETICS
- Long-read sequence and assembly of segmental duplications
- (2018) Mitchell R. Vollger et al. NATURE METHODS
- De Novo Assembly of Two Swedish Genomes Reveals Missing Segments from the Human GRCh38 Reference and Improves Variant Calling of Population-Scale Sequencing Data
- (2018) Adam Ameur et al. Genes
- Genome graphs and the evolution of genome inference
- (2017) Benedict Paten et al. GENOME RESEARCH
- Fast and accurate de novo genome assembly from long uncorrected reads
- (2017) Robert Vaser et al. GENOME RESEARCH
- Transient structural variations have strong effects on quantitative traits and reproductive isolation in fission yeast
- (2017) Daniel C. Jeffares et al. Nature Communications
- Departure from Hardy Weinberg Equilibrium and Genotyping Error
- (2017) Bowang Chen et al. Frontiers in Genetics
- High resolution profiling of coral-associated bacterial communities using full-length 16S rRNA sequence data from PacBio SMRT sequencing system
- (2017) Wirulda Pootakham et al. Scientific Reports
- Assemblytics: a web analytics tool for the detection of variants from an assembly
- (2016) Maria Nattestad et al. BIOINFORMATICS
- HapCUT2: robust and accurate haplotype assembly for diverse sequencing technologies
- (2016) Peter Edge et al. GENOME RESEARCH
- Discovery and genotyping of structural variation from long-read haploid genome sequence data
- (2016) John Huddleston et al. GENOME RESEARCH
- Phased diploid genome assembly with single-molecule real-time sequencing
- (2016) Chen-Shan Chin et al. NATURE METHODS
- Coming of age: ten years of next-generation sequencing technologies
- (2016) Sara Goodwin et al. NATURE REVIEWS GENETICS
- A global reference for human genetic variation
- (2015) Richard A. Gibbs et al. NATURE
- Human Structural Variation: Mechanisms of Chromosome Rearrangements
- (2015) Brooke Weckselblatt et al. TRENDS IN GENETICS
- PBHoney: identifying genomic variants via long-read discordance and interrupted mapping
- (2014) Adam C English et al. BMC BIOINFORMATICS
- ANGSD: Analysis of Next Generation Sequencing Data
- (2014) Thorfinn Sand Korneliussen et al. BMC BIOINFORMATICS
- Estimates of Genetic Differentiation Measured by FST Do Not Necessarily Require Large Sample Sizes When Using Many SNP Markers
- (2012) Eva-Maria Willing et al. PLoS One
- A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data
- (2011) H. Li BIOINFORMATICS
- Adaptive seeds tame genomic sequence comparison
- (2011) S. M. Kielbasa et al. GENOME RESEARCH
- The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
- (2010) A. McKenna et al. GENOME RESEARCH
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationCreate your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create Now