Long-read sequencing in deciphering human genetics to a greater depth
Published 2019 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Long-read sequencing in deciphering human genetics to a greater depth
Authors
Keywords
-
Journal
HUMAN GENETICS
Volume -, Issue -, Pages -
Publisher
Springer Science and Business Media LLC
Online
2019-09-20
DOI
10.1007/s00439-019-02064-y
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Metagenomic sequencing at the epicenter of the Nigeria 2018 Lassa fever outbreak
- (2019) L. E. Kafetzopoulou et al. SCIENCE
- Single-molecule sequencing detection of N6-methyladenine in microbial reference materials
- (2019) Alexa B. R. McIntyre et al. Nature Communications
- Direct RNA sequencing on nanopore arrays redefines the transcriptional complexity of a viral pathogen
- (2019) Daniel P. Depledge et al. Nature Communications
- Long-Read Sequencing – A Powerful Tool in Viral Transcriptome Research
- (2019) Zsolt Boldogkői et al. TRENDS IN MICROBIOLOGY
- The role of ABCA7 in Alzheimer’s disease: evidence from genomics, transcriptomics and methylomics
- (2019) Arne De Roeck et al. ACTA NEUROPATHOLOGICA
- High bandwidth approaches in nanopore and ion channel recordings - A tutorial review
- (2019) Andreas J.W. Hartel et al. ANALYTICA CHIMICA ACTA
- NanoPack: visualizing and processing long-read sequencing data
- (2018) Wouter De Coster et al. BIOINFORMATICS
- Next generation sequencing for preimplantation genetic screening improves pregnancy outcomes compared with array comparative genomic hybridization in single thawed euploid embryo transfer cycles
- (2018) Jenna Friedenthal et al. FERTILITY AND STERILITY
- Combination random isothermal amplification and nanopore sequencing for rapid identification of the causative agent of an outbreak
- (2018) Sören Hansen et al. JOURNAL OF CLINICAL VIROLOGY
- Accurate Typing of Human Leukocyte Antigen Class I Genes by Oxford Nanopore Sequencing
- (2018) Chang Liu et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- N 6 -Methyladenine DNA Modification in the Human Genome
- (2018) Chuan-Le Xiao et al. MOLECULAR CELL
- Nanopore sequencing and assembly of a human genome with ultra-long reads
- (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
- Single molecule real-time (SMRT) sequencing comes of age: applications and utilities for medical diagnostics
- (2018) Simon Ardui et al. NUCLEIC ACIDS RESEARCH
- Guidelines for whole genome bisulphite sequencing of intact and FFPET DNA on the Illumina HiSeq X Ten
- (2018) Shalima S. Nair et al. Epigenetics & Chromatin
- Environmental microbiology: Perspectives for legal and occupational medicine
- (2018) Saverio Giampaoli et al. Legal Medicine
- Long-read sequencing across the C9orf72 ‘GGGGCC’ repeat expansion: implications for clinical use and genetic discovery efforts in human disease
- (2018) Mark T. W. Ebbert et al. Molecular Neurodegeneration
- Single-Molecule Sequencing: Towards Clinical Applications
- (2018) Adam Ameur et al. TRENDS IN BIOTECHNOLOGY
- Direct RNA Sequencing of the Coding Complete Influenza A Virus Genome
- (2018) Matthew W. Keller et al. Scientific Reports
- BulkVis: a graphical viewer for Oxford nanopore bulk FAST5 files
- (2018) Alexander Payne et al. BIOINFORMATICS
- Assessment of metagenomic Nanopore and Illumina sequencing for recovering whole genome sequences of chikungunya and dengue viruses directly from clinical samples
- (2018) Liana E. Kafetzopoulou et al. Eurosurveillance
- Rapid preimplantation genetic screening using a handheld, nanopore-based DNA sequencer
- (2018) Shan Wei et al. FERTILITY AND STERILITY
- Long-read genome sequencing identifies causal structural variation in a Mendelian disease
- (2017) Jason D Merker et al. GENETICS IN MEDICINE
- Fast and accurate de novo genome assembly from long uncorrected reads
- (2017) Robert Vaser et al. GENOME RESEARCH
- Canu: scalable and accurate long-read assembly via adaptivek-mer weighting and repeat separation
- (2017) Sergey Koren et al. GENOME RESEARCH
- Nanopore sequencing of complex genomic rearrangements in yeast reveals mechanisms of repeat-mediated double-strand break repair
- (2017) Ryan J. McGinty et al. GENOME RESEARCH
- Application of next generation sequencing in clinical microbiology and infection prevention
- (2017) Ruud H. Deurenberg et al. JOURNAL OF BIOTECHNOLOGY
- Detecting alternatively spliced transcript isoforms from single-molecule long-read sequences without a reference genome
- (2017) Xiaoxian Liu et al. Molecular Ecology Resources
- Detecting DNA cytosine methylation using nanopore sequencing
- (2017) Jared T Simpson et al. NATURE METHODS
- Mapping DNA methylation with high-throughput nanopore sequencing
- (2017) Arthur C Rand et al. NATURE METHODS
- Genome-wide reconstruction of complex structural variants using read clouds
- (2017) Noah Spies et al. NATURE METHODS
- Towards a genomics-informed, real-time, global pathogen surveillance system
- (2017) Jennifer L. Gardy et al. NATURE REVIEWS GENETICS
- Genotyping-by-sequencing approaches to characterize crop genomes: choosing the right tool for the right application
- (2017) Armin Scheben et al. PLANT BIOTECHNOLOGY JOURNAL
- Improvements in Genomic Technologies: Application to Crop Genomics
- (2017) Yuxuan Yuan et al. TRENDS IN BIOTECHNOLOGY
- Nanopore long-read RNAseq reveals widespread transcriptional variation among the surface receptors of individual B cells
- (2017) Ashley Byrne et al. Nature Communications
- Mapping and phasing of structural variation in patient genomes using nanopore sequencing
- (2017) Mircea Cretu Stancu et al. Nature Communications
- Nanopore-based single molecule sequencing of the D4Z4 array responsible for facioscapulohumeral muscular dystrophy
- (2017) Satomi Mitsuhashi et al. Scientific Reports
- de novo assembly and population genomic survey of natural yeast isolates with the Oxford Nanopore MinION sequencer
- (2017) Benjamin Istace et al. GigaScience
- Single molecule real-time DNA sequencing of HLA genes at ultra-high resolution from 126 International HLA and Immunogenetics Workshop cell lines
- (2017) T. R. Turner et al. HLA
- DeepNano: Deep recurrent neural networks for base calling in MinION nanopore reads
- (2017) Vladimír Boža et al. PLoS One
- RNA-Seq differential expression analysis: An extended review and a software tool
- (2017) Juliana Costa-Silva et al. PLoS One
- De novo yeast genome assemblies from MinION, PacBio and MiSeq platforms
- (2017) Francesca Giordano et al. Scientific Reports
- Minimap and miniasm: fast mapping and de novo assembly for noisy long sequences
- (2016) Heng Li BIOINFORMATICS
- A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree
- (2016) Michael A. Eberle et al. GENOME RESEARCH
- Discovery and genotyping of structural variation from long-read haploid genome sequence data
- (2016) John Huddleston et al. GENOME RESEARCH
- Structural variation detection using next-generation sequencing data
- (2016) Peiyong Guan et al. METHODS
- Real-time, portable genome sequencing for Ebola surveillance
- (2016) Joshua Quick et al. NATURE
- De novo assembly and phasing of a Korean human genome
- (2016) Jeong-Sun Seo et al. NATURE
- Phased diploid genome assembly with single-molecule real-time sequencing
- (2016) Chen-Shan Chin et al. NATURE METHODS
- Towards precision medicine
- (2016) Euan A. Ashley NATURE REVIEWS GENETICS
- Coming of age: ten years of next-generation sequencing technologies
- (2016) Sara Goodwin et al. NATURE REVIEWS GENETICS
- IDP-ASE: haplotyping and quantifying allele-specific expression at the gene and gene isoform level by hybrid sequencing
- (2016) Benjamin Deonovic et al. NUCLEIC ACIDS RESEARCH
- Assembly of long error-prone reads using de Bruijn graphs
- (2016) Yu Lin et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Metagenomic approaches to identifying infectious agents
- (2016) D. HÖPER et al. REVUE SCIENTIFIQUE ET TECHNIQUE-OFFICE INTERNATIONAL DES EPIZOOTIES
- Sequencing Structural Variants in Cancer for Precision Therapeutics
- (2016) Geoff Macintyre et al. TRENDS IN GENETICS
- Long-read sequencing and de novo assembly of a Chinese genome
- (2016) Lingling Shi et al. Nature Communications
- HLA genotyping in the clinical laboratory: comparison of next-generation sequencing methods
- (2016) T. Profaizer et al. HLA
- Oxford Nanopore MinION Sequencing and Genome Assembly
- (2016) Hengyun Lu et al. GENOMICS PROTEOMICS & BIOINFORMATICS
- Pitfalls of haplotype phasing from amplicon-based long-read sequencing
- (2016) Thomas W. Laver et al. Scientific Reports
- hybridSPAdes: an algorithm for hybrid assembly of short and long reads
- (2015) Dmitry Antipov et al. BIOINFORMATICS
- Cost-efficient multiplex PCR for routine genotyping of up to nine classical HLA loci in a single analytical run of multiple samples by next generation sequencing
- (2015) Yuki Ozaki et al. BMC GENOMICS
- Randomized comparison of next-generation sequencing and array comparative genomic hybridization for preimplantation genetic screening: a pilot study
- (2015) Zhihong Yang et al. BMC Medical Genomics
- Somatic structural variation and cancer
- (2015) Jose M. C. Tubio Briefings in Functional Genomics
- Early insights into the potential of the Oxford Nanopore MinION for the detection of antimicrobial resistance genes
- (2015) Kim Judge et al. JOURNAL OF ANTIMICROBIAL CHEMOTHERAPY
- In vitro fertilization with preimplantation genetic screening improves implantation and live birth in women age 40 through 43
- (2015) Hsiao-Ling Lee et al. JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
- The impact of next-generation sequencing technologies on HLA research
- (2015) Kazuyoshi Hosomichi et al. JOURNAL OF HUMAN GENETICS
- An integrated map of structural variation in 2,504 human genomes
- (2015) Peter H. Sudmant et al. NATURE
- Genetic variation and the de novo assembly of human genomes
- (2015) Mark J. P. Chaisson et al. NATURE REVIEWS GENETICS
- Characterization of fusion genes and the significantly expressed fusion isoforms in breast cancer by hybrid sequencing
- (2015) Jason L. Weirather et al. NUCLEIC ACIDS RESEARCH
- Rapid metagenomic identification of viral pathogens in clinical samples by real-time nanopore sequencing analysis
- (2015) Alexander L. Greninger et al. Genome Medicine
- PacBio Sequencing and Its Applications
- (2015) Anthony Rhoads et al. GENOMICS PROTEOMICS & BIOINFORMATICS
- The clinical effectiveness of preimplantation genetic diagnosis for aneuploidy in all 24 chromosomes (PGD-A): systematic review
- (2014) Evelyn Lee et al. HUMAN REPRODUCTION
- Large-scale analysis of tandem repeat variability in the human genome
- (2014) Jorge Duitama et al. NUCLEIC ACIDS RESEARCH
- Sequence assembly using next generation sequencing data—challenges and solutions
- (2014) Francis Y. L. Chin et al. Science China-Life Sciences
- Haplotype Estimation Using Sequencing Reads
- (2013) Olivier Delaneau et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Next-Generation Sequencing Platforms
- (2013) Elaine R. Mardis Annual Review of Analytical Chemistry
- Technical and implementation issues in using next-generation sequencing of cancers in clinical practice
- (2013) D Ulahannan et al. BRITISH JOURNAL OF CANCER
- Assessment of transcript reconstruction methods for RNA-seq
- (2013) Tamara Steijger et al. NATURE METHODS
- Sequencing the unsequenceable: Expanded CGG-repeat alleles of the fragile X gene
- (2012) E. W. Loomis et al. GENOME RESEARCH
- Comparison of Next-Generation Sequencing Systems
- (2012) Lin Liu et al. JOURNAL OF BIOMEDICINE AND BIOTECHNOLOGY
- Hybrid error correction and de novo assembly of single-molecule sequencing reads
- (2012) Sergey Koren et al. NATURE BIOTECHNOLOGY
- Reading DNA at single-nucleotide resolution with a mutant MspA nanopore and phi29 DNA polymerase
- (2012) Elizabeth A Manrao et al. NATURE BIOTECHNOLOGY
- High-throughput, high-fidelity HLA genotyping with deep sequencing
- (2012) C. Wang et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Evidence of novel fine-scale structural variation at autism spectrum disorder candidate loci
- (2012) Dale J Hedges et al. Molecular Autism
- Next-generation sequencing for HLA typing of class I loci
- (2011) Rachel L Erlich et al. BMC GENOMICS
- Next-generation transcriptome assembly
- (2011) Jeffrey A. Martin et al. NATURE REVIEWS GENETICS
- The importance of phase information for human genomics
- (2011) Ryan Tewhey et al. NATURE REVIEWS GENETICS
- Repetitive DNA and next-generation sequencing: computational challenges and solutions
- (2011) Todd J. Treangen et al. NATURE REVIEWS GENETICS
- Characterizing complex structural variation in germline and somatic genomes
- (2011) Aaron R. Quinlan et al. TRENDS IN GENETICS
- Repetitive Elements May Comprise Over Two-Thirds of the Human Genome
- (2011) A. P. Jason de Koning et al. PLoS Genetics
- Cytogenetic analysis of human blastocysts with the use of FISH, CGH and aCGH: scientific data and technical evaluation
- (2010) E. Fragouli et al. HUMAN REPRODUCTION
- Limitations of next-generation genome sequence assembly
- (2010) Can Alkan et al. NATURE METHODS
- A flexible and efficient template format for circular consensus sequencing and SNP detection
- (2010) K. J. Travers et al. NUCLEIC ACIDS RESEARCH
- Towards a comprehensive structural variation map of an individual human genome
- (2010) Andy W Pang et al. GENOME BIOLOGY
- Comprehensive chromosome screening of polar bodies and blastocysts from couples experiencing repeated implantation failure
- (2009) Elpida Fragouli et al. FERTILITY AND STERILITY
- High-throughput bisulfite sequencing in mammalian genomes
- (2009) Zachary D. Smith et al. METHODS
- Continuous base identification for single-molecule nanopore DNA sequencing
- (2009) James Clarke et al. Nature Nanotechnology
- The biological effects of simple tandem repeats: Lessons from the repeat expansion diseases
- (2008) K. Usdin GENOME RESEARCH
- Human MHC architecture and evolution: implications for disease association studies
- (2008) J. A. Traherne International Journal of Immunogenetics
- Real-Time DNA Sequencing from Single Polymerase Molecules
- (2008) J. Eid et al. SCIENCE
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