Application of long read sequencing in rare diseases: The longer, the better?

Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing

(2023) Xiao Chen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome/Genome Sequencing in Undiagnosed Syndromes

(2023) Jennifer A. Sullivan et al.   Annual Review of Medicine

Decomposing mosaic tandem repeats accurately from long reads

(2023) Bansho Masutani et al.   BIOINFORMATICS

Calling and Phasing of Single-Nucleotide and Structural Variants of the LDLR Gene Using Oxford Nanopore MinION

(2023) Maria S. Nazarenko et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Implementation of Nanopore sequencing as a pragmatic workflow for copy number variant confirmation in the clinic

(2023) Stephanie U. Greer et al.   Journal of Translational Medicine

Targeted adaptive long-read sequencing for discovery of complex phased variants in inherited retinal disease patients

(2023) Kenji Nakamichi et al.   Scientific Reports

Biallelic structural variations withinFGF12detected by long-read sequencing in epilepsy

(2023) Sachiko Ohori et al.   Life Science Alliance

Long-read sequencing: An effective method for genetic analysis of CYP21A2 variation in congenital adrenal hyperplasia

(2023) Huijun Li et al.   CLINICA CHIMICA ACTA

The CGG repeat expansion in RILPL1 is associated with oculopharyngodistal myopathy type 4

(2022) Jiaxi Yu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetic findings of Sanger and nanopore single-molecule sequencing in patients with X-linked hearing loss and incomplete partition type III

(2022) Ying Chen et al.   Orphanet Journal of Rare Diseases

Comprehensive analysis of spinal muscular atrophy (CASMA): SMN1 copy number, intragenic mutation and 2 + 0 carrier analysis by third-generation sequencing

(2022) Shuyuan Li et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Long read sequencing overcomes challenges in the diagnosis of SORD neuropathy

(2022) Bianca R. Grosz et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

A call for an integrated approach to improve efficiency, equity and sustainability in rare disease research in the United States

(2022) Meghan C. Halley et al.   NATURE GENETICS

A guide for the diagnosis of rare and undiagnosed disease: beyond the exome

(2022) Shruti Marwaha et al.   Genome Medicine

High Resolution Analysis of DMPK Hypermethylation and Repeat Interruptions in Myotonic Dystrophy Type 1

(2022) Astrid Rasmussen et al.   Genes

Long-Read Sequencing Revealed Extragenic and Intragenic Duplications of Exons 56–61 in DMD in an Asymptomatic Male and a DMD Patient

(2022) Ying Bai et al.   Frontiers in Genetics

Comprehensive Analysis of Congenital Adrenal Hyperplasia Using Long-Read Sequencing

(2022) Yingdi Liu et al.   CLINICAL CHEMISTRY

Analysis of rare thalassemia genetic variants based on third-generation sequencing

(2022) Cuiting Peng et al.   Scientific Reports

Comprehensive Analysis of Fragile X Syndrome: Full Characterization of the FMR1 Locus by Long-Read Sequencing

(2022) Qiaowei Liang et al.   CLINICAL CHEMISTRY

Patients with biallelic GGC repeat expansions in NOTCH2NLC exhibiting a typical neuronal intranuclear inclusion disease phenotype

(2022) Shinichi Kameyama et al.   GENOMICS

An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14

(2022) Haloom Rafehi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Simultaneous measurement of the size and methylation of chromosome 4qA-D4Z4 repeats in facioscapulohumeral muscular dystrophy by long-read sequencing

(2022) Yosuke Hiramuki et al.   Journal of Translational Medicine

High-accuracy long-read amplicon sequences using unique molecular identifiers with Nanopore or PacBio sequencing

(2021) Søren M. Karst et al.   NATURE METHODS

The GGC repeat expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy type 3

(2021) Jiaxi Yu et al.   BRAIN

Laboratory testing for fragile X, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

(2021) Elaine Spector et al.   GENETICS IN MEDICINE

A More Universal Approach to Comprehensive Analysis of Thalassemia Alleles (CATSA)

(2021) Qiaowei Liang et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnostics

(2021) Sanjog R. Chintalaphani et al.   Acta Neuropathologica Communications

The value of single-molecule real-time technology in the diagnosis of rare thalassemia variants and analysis of phenotype–genotype correlation

(2021) Shiqiang Luo et al.   JOURNAL OF HUMAN GENETICS

Father-to-offspring transmission of extremely long NOTCH2NLC repeat expansions with contractions: genetic and epigenetic profiling with long-read sequencing

(2021) Hiromi Fukuda et al.   Clinical Epigenetics

Third-Generation Sequencing: The Spearhead towards the Radical Transformation of Modern Genomics

(2021) Konstantina Athanasopoulou et al.   Life-Basel

Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy

(2020) Jianwen Deng et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Analysis and comprehensive comparison of PacBio and nanopore-based RNA sequencing of the Arabidopsis transcriptome

(2020) Jiawen Cui et al.   Plant Methods

Pathogenic 12-kb copy-neutral inversion in syndromic intellectual disability identified by high-fidelity long-read sequencing

(2020) Takeshi Mizuguchi et al.   GENOMICS

Expediting rare disease diagnosis: a call to bridge the gap between clinical and functional genomics

(2020) Samantha N. Hartin et al.   MOLECULAR MEDICINE

Comparison of the two up-to-date sequencing technologies for genome assembly: HiFi reads of Pacific Biosciences Sequel II system and ultralong reads of Oxford Nanopore

(2020) Dandan Lang et al.   GigaScience

Newest Methods for Detecting Structural Variations

(2019) Wouter De Coster et al.   TRENDS IN BIOTECHNOLOGY

A 12-kb structural variation in progressive myoclonic epilepsy was newly identified by long-read whole-genome sequencing

(2019) Takeshi Mizuguchi et al.   JOURNAL OF HUMAN GENETICS

Increasing the accuracy of nanopore DNA sequencing using a time-varying cross membrane voltage

(2019) Matthew T. Noakes et al.   NATURE BIOTECHNOLOGY

Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome

(2019) Claudia M. B. Carvalho et al.   Genome Medicine

Uncovering Missing Heritability in Rare Diseases

(2019) Tatiana Maroilley et al.   Genes

Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders

(2019) Yun Tian et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease

(2019) Jun Sone et al.   NATURE GENETICS

Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease

(2019) Hiroyuki Ishiura et al.   NATURE GENETICS

Long-read sequencing for rare human genetic diseases

(2019) Satomi Mitsuhashi et al.   JOURNAL OF HUMAN GENETICS

Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome

(2019) Aaron M. Wenger et al.   NATURE BIOTECHNOLOGY

Clinical sequencing: From raw data to diagnosis with lifetime value

(2018) S.M. Caspar et al.   CLINICAL GENETICS

De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1

(2018) Sarah A. Cumming et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Breakpoint mapping of a novel de novo translocation t(X;20)(q11.1;p13) by positional cloning and long read sequencing

(2018) Usha R. Dutta et al.   GENOMICS

Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencing

(2018) Ida Höijer et al.   HUMAN MUTATION

Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy

(2018) Hiroyuki Ishiura et al.   NATURE GENETICS

Structural variation in the 3D genome

(2018) Malte Spielmann et al.   NATURE REVIEWS GENETICS

The Third Revolution in Sequencing Technology

(2018) Erwin L. van Dijk et al.   TRENDS IN GENETICS

Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations

(2018) Andrea Wenzel et al.   Scientific Reports

Detecting AGG Interruptions in Females With a FMR1 Premutation by Long-Read Single-Molecule Sequencing: A 1 Year Clinical Experience

(2018) Simon Ardui et al.   Frontiers in Genetics

Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a Bardet–Biedl Syndrome 9 (BBS9) deletion

(2018) Jennifer Reiner et al.   npj Genomic Medicine

Long-read sequencing identified intronic repeat expansions in SAMD12 from Chinese pedigrees affected with familial cortical myoclonic tremor with epilepsy

(2018) Sheng Zeng et al.   JOURNAL OF MEDICAL GENETICS

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

Long-read sequencing identified a causal structural variant in an exome-negative case and enabled preimplantation genetic diagnosis

(2018) Hefan Miao et al.   HEREDITAS

Detecting a long insertion variant in SAMD12 by SMRT sequencing: implications of long-read whole-genome sequencing for repeat expansion diseases

(2018) Takeshi Mizuguchi et al.   JOURNAL OF HUMAN GENETICS

Long-read genome sequencing identifies causal structural variation in a Mendelian disease

(2017) Jason D Merker et al.   GENETICS IN MEDICINE

Detecting PKD1 variants in polycystic kidney disease patients by single-molecule long-read sequencing

(2017) Daniel M. Borràs et al.   HUMAN MUTATION

Mapping and phasing of structural variation in patient genomes using nanopore sequencing

(2017) Mircea Cretu Stancu et al.   Nature Communications

Exonization of an Intronic LINE-1 Element Causing Becker Muscular Dystrophy as a Novel Mutational Mechanism in Dystrophin Gene

(2017) Ana Gonçalves et al.   Genes

Discovery and genotyping of structural variation from long-read haploid genome sequence data

(2016) John Huddleston et al.   GENOME RESEARCH

The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations

(2015) Catherine L. Bladen et al.   HUMAN MUTATION

SMRT Sequencing of Long Tandem Nucleotide Repeats in SCA10 Reveals Unique Insight of Repeat Expansion Structure

(2015) Karen N. McFarland et al.   PLoS One

A tale of three next generation sequencing platforms: comparison of Ion torrent, pacific biosciences and illumina MiSeq sequencers

(2012) Michael Quail et al.   BMC GENOMICS

Sequencing the unsequenceable: Expanded CGG-repeat alleles of the fragile X gene

(2012) E. W. Loomis et al.   GENOME RESEARCH

Reading DNA at single-nucleotide resolution with a mutant MspA nanopore and phi29 DNA polymerase

(2012) Elizabeth A Manrao et al.   NATURE BIOTECHNOLOGY

Genome structural variation discovery and genotyping

(2011) Can Alkan et al.   NATURE REVIEWS GENETICS

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

(2009) Murim Choi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Real-Time DNA Sequencing from Single Polymerase Molecules

(2008) J. Eid et al.   SCIENCE