Diagnostic capabilities of nanopore long‐read sequencing in muscular dystrophy
Annals of Clinical and Translational Neurology, 2022 Many individuals with muscular dystrophies remain genetically undiagnosed despite clinical diagnostic testing, including exome sequencing. Some may harbor previously undetected structural variants (SVs) or cryptic splice sites.
Christine C. Bruels +23 more
doaj +1 more source
Do Read Errors Matter for Genome Assembly?
, 2016 While most current high-throughput DNA sequencing technologies generate short reads with low error rates, emerging sequencing technologies generate long reads with high error rates.
Courtade, Thomas +2 more
core +1 more source
Reconstructing complex regions of genomes using long-read sequencing technology [PDF]
, 2014 Cataloged from PDF version of article.Obtaining high-quality sequence continuity of complex regions of recent segmental duplication remains one of the major challenges of finishing genome assemblies.
Can Alkan +13 more
core +1 more source
Jabba: hybrid error correction for long sequencing reads using maximal exact matches [PDF]
, 2015 Third generation sequencing platforms produce longer reads with higher error rates than second generation sequencing technologies. While the improved read length can provide useful information for downstream analysis, underlying algorithms are challenged
Audenaert, P. +4 more
core +1 more source
Models and information-theoretic bounds for nanopore sequencing
, 2018 Nanopore sequencing is an emerging new technology for sequencing DNA, which can read long fragments of DNA (~50,000 bases) in contrast to most current short-read sequencing technologies which can only read hundreds of bases. While nanopore sequencers can
Diggavi, Suhas +2 more
core +1 more source
The hidden perils of read mapping as a quality assessment tool in genome sequencing [PDF]
, 2017 This article provides a comparative analysis of the various methods of genome sequencing focusing on verification of the assembly quality. The results of a comparative assessment of various de novo assembly tools, as well as sequencing technologies, are ...
A Bankevich +14 more
core +1 more source
Mapping the evolution of mitochondrial complex I through structural variation
FEBS Letters, EarlyView.Respiratory complex I (CI) is crucial for bioenergetic metabolism in many prokaryotes and eukaryotes. It is composed of a conserved set of core subunits and additional accessory subunits that vary depending on the organism. Here, we categorize CI subunits from available structures to map the evolution of CI across eukaryotes. Respiratory complex I (CI)
Dong‐Woo Shin +2 more
wiley +1 more source
Applications of long-read sequencing to Mendelian genetics
Genome Medicine, 2023 Advances in clinical genetic testing, including the introduction of exome sequencing, have uncovered the molecular etiology for many rare and previously unsolved genetic disorders, yet more than half of individuals with a suspected genetic disorder ...
Francesco Kumara Mastrorosa +2 more
doaj +1 more source
Application of long-read sequencing to the detection of structural variants in human cancer genomes
Computational and Structural Biotechnology Journal, 2021 In recent years, the so-called long-read sequencing technology has had a substantial impact on various aspects of genome sciences. Here, we introduce recent studies of cancerous structural variants (SVs) using long-read sequencing technologies, namely ...
Yoshitaka Sakamoto +4 more
doaj +1 more source
Improving nanopore read accuracy with the R2C2 method enables the sequencing of highly multiplexed full-length single-cell cDNA. [PDF]
, 2018 High-throughput short-read sequencing has revolutionized how transcriptomes are quantified and annotated. However, while Illumina short-read sequencers can be used to analyze entire transcriptomes down to the level of individual splicing events with ...
Byrne, Ashley +6 more
core +1 more source