Long-read sequencing in human genetics

Novel familial distal imprinting centre 1 (11p15.5) deletion provides further insights in imprinting regulation

(2019) Florian Kraft et al.   Clinical Epigenetics

DEGS1-associated aberrant sphingolipid metabolism impairs nervous system function in humans

(2019) Gergely Karsai et al.   JOURNAL OF CLINICAL INVESTIGATION

Ultra-deep, long-read nanopore sequencing of mock microbial community standards

(2019) Samuel M Nicholls et al.   GigaScience

Multi-platform discovery of haplotype-resolved structural variation in human genomes

(2019) Mark J. P. Chaisson et al.   Nature Communications

An intronic VNTR affects splicing of ABCA7 and increases risk of Alzheimer’s disease

(2018) Arne De Roeck et al.   ACTA NEUROPATHOLOGICA

Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly

(2018) Tatsiana Aneichyk et al.   CELL

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

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

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

(2018) Hiroyuki Ishiura et al.   NATURE GENETICS

Picky comprehensively detects high-resolution structural variants in nanopore long reads

(2018) Liang Gong et al.   NATURE METHODS

Highly parallel direct RNA sequencing on an array of nanopores

(2018) Daniel R Garalde et al.   NATURE METHODS

Piercing the dark matter: bioinformatics of long-range sequencing and mapping

(2018) Fritz J. Sedlazeck et al.   NATURE REVIEWS GENETICS

Single molecule real-time (SMRT) sequencing comes of age: applications and utilities for medical diagnostics

(2018) Simon Ardui et al.   NUCLEIC ACIDS RESEARCH

Acquisition of virulence genes by a carrier strain gave rise to the ongoing epidemics of meningococcal disease in West Africa

(2018) Ola Brønstad Brynildsrud et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Third Revolution in Sequencing Technology

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

Multiplexed Nanopore Sequencing of HLA-B Locus in Māori and Pacific Island Samples

(2018) Kim N. T. Ton et al.   Frontiers in Genetics

A nanopore sequencing–based assay for rapid detection of gene fusions

(2018) William R. Jeck et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Single-Molecule Sequencing: Towards Clinical Applications

(2018) Adam Ameur et al.   TRENDS IN BIOTECHNOLOGY

Forensic tri-allelic SNP genotyping using nanopore sequencing

(2018) Senne Cornelis et al.   Forensic Science International-Genetics

Antimicrobial resistance prediction and phylogenetic analysis of Neisseria gonorrhoeae isolates using the Oxford Nanopore MinION sequencer

(2018) Daniel Golparian et al.   Scientific Reports

Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

(2018) Alba Sanchis-Juan et al.   Genome Medicine

Revealing complete complex KIR haplotypes phased by long-read sequencing technology

(2017) D Roe et al.   GENES AND IMMUNITY

Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single-Molecule Sequencing

(2017) Simon Ardui et al.   HUMAN MUTATION

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

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

DNA sequencing at 40: past, present and future

(2017) Jay Shendure et al.   NATURE

Establishment and cryptic transmission of Zika virus in Brazil and the Americas

(2017) N. R. Faria et al.   NATURE

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

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

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

Profiling bacterial communities by MinION sequencing of ribosomal operons

(2017) Lee J. Kerkhof et al.   Microbiome

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

On 'three decades of nanopore sequencing'

(2016) John J Kasianowicz et al.   NATURE BIOTECHNOLOGY

Three decades of nanopore sequencing

(2016) David Deamer et al.   NATURE BIOTECHNOLOGY

Real-time selective sequencing using nanopore technology

(2016) Matthew Loose et al.   NATURE METHODS

Analysis of the mouse gut microbiome using full-length 16S rRNA amplicon sequencing

(2016) Jongoh Shin et al.   Scientific Reports

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

Sequencing technologies — the next generation

(2009) Michael L. Metzker   NATURE REVIEWS GENETICS