- Home
- Publications
- Publication Search
- Publication Details
Title
Applications of long-read sequencing to Mendelian genetics
Authors
Keywords
-
Journal
Genome Medicine
Volume 15, Issue 1, Pages -
Publisher
Springer Science and Business Media LLC
Online
2023-06-14
DOI
10.1186/s13073-023-01194-3
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Long‐read genome sequencing resolves a complex 13q structural variant associated with syndromic anophthalmia
- (2022) Pierre K. Boerkoel et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- LongPhase: an ultra-fast chromosome-scale phasing algorithm for small and large variants
- (2022) Jyun-Hong Lin et al. BIOINFORMATICS
- Curated variation benchmarks for challenging medically relevant autosomal genes
- (2022) Justin Wagner et al. NATURE BIOTECHNOLOGY
- Ultrarapid Nanopore Genome Sequencing in a Critical Care Setting
- (2022) John E. Gorzynski et al. NEW ENGLAND JOURNAL OF MEDICINE
- A comprehensive long-read isoform analysis platform and sequencing resource for breast cancer
- (2022) Diogo F. T. Veiga et al. Science Advances
- Chromosomal microarray analysis of 410 Han Chinese patients with autism spectrum disorder or unexplained intellectual disability and developmental delay
- (2022) Yi Liu et al. npj Genomic Medicine
- Long-read sequencing to resolve the parent of origin of a de novo pathogenic UBE3A variant
- (2022) Christopher Mark Watson et al. JOURNAL OF MEDICAL GENETICS
- Targeted long-read sequencing identifies missing pathogenic variants in unsolved Werner syndrome cases
- (2022) Danny E. Miller et al. JOURNAL OF MEDICAL GENETICS
- Haplotype-resolved assembly of diploid genomes without parental data
- (2022) Haoyu Cheng et al. NATURE BIOTECHNOLOGY
- Pangenome-based genome inference allows efficient and accurate genotyping across a wide spectrum of variant classes
- (2022) Jana Ebler et al. NATURE GENETICS
- 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
- Long-read sequencing unveils high-resolution HPV integration and its oncogenic progression in cervical cancer
- (2022) Liyuan Zhou et al. Nature Communications
- Optimization, validation and initial clinical implications of a Luminex-based immunoassay for the quantification of Fragile X Protein from dried blood spots
- (2022) Anna E. Boggs et al. Scientific Reports
- Targeted Long‐Read Sequencing Identifies a Retrotransposon Insertion as a Cause of Altered GNAS Exon A/B Methylation in a Family With Autosomal Dominant Pseudohypoparathyroidism Type 1b ( PHP1B )
- (2022) Danny E Miller et al. JOURNAL OF BONE AND MINERAL RESEARCH
- Likely pathogenic structural variants in genetically unsolved patients with retinitis pigmentosa revealed by long-read sequencing
- (2022) Yusuke Sano et al. JOURNAL OF MEDICAL GENETICS
- Oxford Nanopore R10.4 long-read sequencing enables the generation of near-finished bacterial genomes from pure cultures and metagenomes without short-read or reference polishing
- (2022) Mantas Sereika et al. NATURE METHODS
- Short- and long-read metagenomics expand individualized structural variations in gut microbiomes
- (2022) Liang Chen et al. Nature Communications
- Nanopore sequencing of a monkeypox virus strain isolated from a pustular lesion in the Central African Republic
- (2022) Mathias Vandenbogaert et al. Scientific Reports
- Diagnostic capabilities of nanopore long‐read sequencing in muscular dystrophy
- (2022) Christine C. Bruels et al. Annals of Clinical and Translational Neurology
- Pacific Biosciences Fusion and Long Isoform Pipeline for Cancer Transcriptome–Based Resolution of Isoform Complexity
- (2022) Anthony R. Miller et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- Advances in nanopore direct RNA sequencing
- (2022) Miten Jain et al. NATURE METHODS
- VeChat: correcting errors in long reads using variation graphs
- (2022) Xiao Luo et al. Nature Communications
- A spatially resolved brain region- and cell type-specific isoform atlas of the postnatal mouse brain
- (2021) Anoushka Joglekar et al. Nature Communications
- Robust Detection of Somatic Mosaicism and Repeat Interruptions by Long-Read Targeted Sequencing in Myotonic Dystrophy Type 1
- (2021) Antoine Mangin et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- 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
- DNA Methylation, Mechanisms of FMR1 Inactivation and Therapeutic Perspectives for Fragile X Syndrome
- (2021) Veronica Nobile et al. Biomolecules
- Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits
- (2021) Doruk Beyter et al. NATURE GENETICS
- Targeted long-read sequencing identifies missing disease-causing variation
- (2021) Danny E. Miller et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Nanopore base calling on the edge
- (2021) Peter Perešíni et al. BIOINFORMATICS
- PTEN somatic mutations contribute to spectrum of cerebral overgrowth
- (2021) Daniel C Koboldt et al. BRAIN
- High-precision and cost-efficient sequencing for real-time COVID-19 surveillance
- (2021) Sung Yong Park et al. Scientific Reports
- Direct Nanopore Sequencing of Individual Full Length tRNA Strands
- (2021) Niki K. Thomas et al. ACS Nano
- Direct RNA Nanopore Sequencing of Pseudomonas aeruginosa Clone C Transcriptomes
- (2021) Marie-Madlen Pust et al. JOURNAL OF BACTERIOLOGY
- Improved Characterization of Complex β-Globin Gene Cluster Structural Variants Using Long-Read Sequencing
- (2021) Aruna Rangan et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- Haplotype-aware variant calling with PEPPER-Margin-DeepVariant enables high accuracy in nanopore long-reads
- (2021) Kishwar Shafin et al. NATURE METHODS
- Altered cell and RNA isoform diversity in aging Down syndrome brains
- (2021) Carter R. Palmer et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Identification of high-confidence human poly(A) RNA isoform scaffolds using nanopore sequencing
- (2021) Logan Mulroney et al. RNA
- RNA modifications detection by comparative Nanopore direct RNA sequencing
- (2021) Adrien Leger et al. Nature Communications
- Targeted nanopore sequencing with Cas9-guided adapter ligation
- (2020) Timothy Gilpatrick et al. NATURE BIOTECHNOLOGY
- Association between IQ and FMR1 protein (FMRP) across the spectrum of CGG repeat expansions
- (2020) Kyoungmi Kim et al. PLoS One
- A structural variation reference for medical and population genetics
- (2020) Ryan L. Collins et al. NATURE
- 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
- Improved structural variant interpretation for hereditary cancer susceptibility using long-read sequencing
- (2020) My Linh Thibodeau et al. GENETICS IN MEDICINE
- Long-read human genome sequencing and its applications
- (2020) Glennis A. Logsdon et al. NATURE REVIEWS GENETICS
- A pipeline for complete characterization of complex germline rearrangements from long DNA reads
- (2020) Satomi Mitsuhashi et al. Genome Medicine
- A 4.6 Mb Inversion Leading to PCDH15-LINC00844 and BICC1-PCDH15 Fusion Transcripts as a New Pathogenic Mechanism Implicated in Usher Syndrome Type 1
- (2020) Christel Vaché et al. Frontiers in Genetics
- CRISPR–Cas9/long-read sequencing approach to identify cryptic mutations in BRCA1 and other tumour suppressor genes
- (2020) Tom Walsh et al. JOURNAL OF MEDICAL GENETICS
- Assessing the utility of long-read nanopore sequencing for rapid and efficient characterization of mobile element insertions
- (2020) Christopher M. Watson et al. LABORATORY INVESTIGATION
- Long‐read whole‐genome sequencing for the genetic diagnosis of dystrophinopathies
- (2020) Zhiying Xie et al. Annals of Clinical and Translational Neurology
- A Genotype-Phenotype Study of High-Resolution FMR1 Nucleic Acid and Protein Analyses in Fragile X Patients with Neurobehavioral Assessments
- (2020) Dejan B. Budimirovic et al. Brain Sciences
- Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity
- (2020) Gregory Costain et al. JAMA Network Open
- A comprehensive evaluation of long read error correction methods
- (2020) Haowen Zhang et al. BMC GENOMICS
- Pathogenic 12-kb copy-neutral inversion in syndromic intellectual disability identified by high-fidelity long-read sequencing
- (2020) Takeshi Mizuguchi et al. GENOMICS
- Readfish enables targeted nanopore sequencing of gigabase-sized genomes
- (2020) Alexander Payne 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
- Characterizing the Major Structural Variant Alleles of the Human Genome
- (2019) Peter A. Audano et al. CELL
- Direct RNA sequencing on nanopore arrays redefines the transcriptional complexity of a viral pathogen
- (2019) Daniel P. Depledge et al. Nature Communications
- Inner Workings: Portable DNA sequencer helps farmers stymie devastating viruses
- (2019) Leah Shaffer PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- FLAS: fast and high throughput algorithm for PacBio long read self-correction
- (2019) Ergude Bao et al. BIOINFORMATICS
- DeepSignal: detecting DNA methylation state from Nanopore sequencing reads using deep-learning
- (2019) Peng Ni et al. BIOINFORMATICS
- Assembly of long, error-prone reads using repeat graphs
- (2019) Mikhail Kolmogorov et al. NATURE BIOTECHNOLOGY
- Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease
- (2019) Hiroyuki Ishiura et al. NATURE GENETICS
- Reading canonical and modified nucleobases in 16S ribosomal RNA using nanopore native RNA sequencing
- (2019) Andrew M. Smith et al. PLoS One
- Multi-platform discovery of haplotype-resolved structural variation in human genomes
- (2019) Mark J. P. Chaisson et al. Nature Communications
- Detection of DNA base modifications by deep recurrent neural network on Oxford Nanopore sequencing data
- (2019) Qian Liu et al. Nature Communications
- Targeted Long-Read RNA Sequencing Demonstrates Transcriptional Diversity Driven by Splice-Site Variation in MYBPC3
- (2019) Alexandra Dainis et al. Circulation-Genomic and Precision Medicine
- Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome
- (2019) Aaron M. Wenger et al. NATURE BIOTECHNOLOGY
- A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants
- (2019) Stephen F. Kingsmore et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Improved assembly and variant detection of a haploid human genome using single‐molecule, high‐fidelity long reads
- (2019) Mitchell R. Vollger et al. ANNALS OF HUMAN GENETICS
- Long‐read nanopore sequencing resolves a TMEM231 gene conversion event causing Meckel–Gruber syndrome
- (2019) Christopher M. Watson et al. HUMAN MUTATION
- Nanopore native RNA sequencing of a human poly(A) transcriptome
- (2019) Rachael E. Workman et al. NATURE METHODS
- Rapid detection of chromosomal translocation and precise breakpoint characterization in acute myeloid leukemia by nanopore long-read sequencing
- (2019) Chun Hang Au et al. Cancer Genetics
- Fast and accurate long-read assembly with wtdbg2
- (2019) Jue Ruan et al. NATURE METHODS
- Minimap2: pairwise alignment for nucleotide sequences
- (2018) Heng Li BIOINFORMATICS
- Hybrid correction of highly noisy long reads using a variable-order de Bruijn graph
- (2018) Pierre Morisse et al. BIOINFORMATICS
- Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencing
- (2018) Ida Höijer et al. HUMAN MUTATION
- Highly parallel direct RNA sequencing on an array of nanopores
- (2018) Daniel R Garalde et al. NATURE METHODS
- Accurate detection of complex structural variations using single-molecule sequencing
- (2018) Fritz J. Sedlazeck et al. NATURE METHODS
- Selective nanopore sequencing of human BRCA1 by Cas9-assisted targeting of chromosome segments (CATCH)
- (2018) Tslil Gabrieli et al. NUCLEIC ACIDS RESEARCH
- A universal SNP and small-indel variant caller using deep neural networks
- (2018) Ryan Poplin et al. NATURE BIOTECHNOLOGY
- GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome
- (2018) Amy J. LaCroix et al. AMERICAN JOURNAL OF HUMAN GENETICS
- De novo assembly of haplotype-resolved genomes with trio binning
- (2018) Sergey Koren et al. NATURE BIOTECHNOLOGY
- Detecting DNA cytosine methylation using nanopore sequencing
- (2017) Jared T Simpson et al. NATURE METHODS
- MODOMICS: a database of RNA modification pathways. 2017 update
- (2017) Pietro Boccaletto et al. NUCLEIC ACIDS RESEARCH
- Nanopore DNA Sequencing and Genome Assembly on the International Space Station
- (2017) Sarah L. Castro-Wallace et al. Scientific Reports
- Accurate self-correction of errors in long reads using de Bruijn graphs
- (2016) Leena Salmela et al. BIOINFORMATICS
- CoLoRMap: Correcting Long Reads by Mapping short reads
- (2016) Ehsan Haghshenas et al. BIOINFORMATICS
- Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing
- (2016) Diana Mandelker et al. GENETICS IN MEDICINE
- Discovery and genotyping of structural variation from long-read haploid genome sequence data
- (2016) John Huddleston et al. GENOME RESEARCH
- TMEM231Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family
- (2016) Dino Maglic et al. HUMAN MUTATION
- Real-time, portable genome sequencing for Ebola surveillance
- (2016) Joshua Quick et al. NATURE
- Analysis of protein-coding genetic variation in 60,706 humans
- (2016) Monkol Lek et al. NATURE
- Benchmarking of the Oxford Nanopore MinION sequencing for quantitative and qualitative assessment of cDNA populations
- (2016) Spyros Oikonomopoulos et al. Scientific Reports
- PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations
- (2015) Min Wang et al. BMC GENOMICS
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- A global reference for human genetic variation
- (2015) Richard A. Gibbs et al. NATURE
- Assembling large genomes with single-molecule sequencing and locality-sensitive hashing
- (2015) Konstantin Berlin et al. NATURE BIOTECHNOLOGY
- Genetic variation and the de novo assembly of human genomes
- (2015) Mark J. P. Chaisson et al. NATURE REVIEWS GENETICS
- LoRDEC: accurate and efficient long read error correction
- (2014) Leena Salmela et al. BIOINFORMATICS
- proovread : large-scale high-accuracy PacBio correction through iterative short read consensus
- (2014) Thomas Hackl et al. BIOINFORMATICS
- Genome sequencing identifies major causes of severe intellectual disability
- (2014) Christian Gilissen et al. NATURE
- Resolving the complexity of the human genome using single-molecule sequencing
- (2014) Mark J. P. Chaisson et al. NATURE
- Mapping single molecule sequencing reads using basic local alignment with successive refinement (BLASR): application and theory
- (2012) Mark J Chaisson et al. BMC BIOINFORMATICS
- Sequencing the unsequenceable: Expanded CGG-repeat alleles of the fragile X gene
- (2012) E. W. Loomis et al. GENOME RESEARCH
- Direct detection of DNA methylation during single-molecule, real-time sequencing
- (2010) Benjamin A Flusberg et al. NATURE METHODS
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreDiscover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversation