Diagnostic capabilities of nanopore long‐read sequencing in muscular dystrophy
Sign Up to like & getrecommendations! Published in 2022 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.51612
Abstract: 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. We enrolled 10 unrelated families: nine had muscular… read more here.
Keywords: dystrophy; muscular dystrophy; read sequencing; capabilities nanopore ... See more keywords
Long‐read sequencing for molecular diagnostics in constitutional genetic disorders
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24465
Abstract: Long‐read sequencing (LRS) has been around for more than a decade, but widespread adoption of the technology has been slow due to the perceived high error rates and high sequencing cost. This is changing due… read more here.
Keywords: diagnostics constitutional; sequencing molecular; lrs; read sequencing ... See more keywords
Targeted nanopore sequencing enables complete characterisation of structural deletions initially identified using exon-based short-read sequencing strategies.
Sign Up to like & getrecommendations! Published in 2023 at "Molecular genetics & genomic medicine"
DOI: 10.1002/mgg3.2164
Abstract: BACKGROUND The widespread adoption of exome sequencing has greatly increased the rate of genetic diagnosis for inherited conditions. However, the detection and validation of large deletions remains challenging. While numerous bioinformatics approaches have been developed… read more here.
Keywords: short read; characterisation; targeted nanopore; read sequencing ... See more keywords
Implications of Error-Prone Long-Read Whole-Genome Shotgun Sequencing on Characterizing Reference Microbiomes
Sign Up to like & getrecommendations! Published in 2020 at "iScience"
DOI: 10.1016/j.isci.2020.101223
Abstract: Summary Long-read sequencing techniques, such as the Oxford Nanopore Technology, can generate reads that are tens of kilobases in length and are therefore particularly relevant for microbiome studies. However, owing to the higher per-base error… read more here.
Keywords: long read; implications error; prone long; error prone ... See more keywords
A simple method for high molecular-weight genomic DNA extraction suitable for long-read sequencing from spores of an obligate biotroph oomycete.
Sign Up to like & getrecommendations! Published in 2020 at "Journal of microbiological methods"
DOI: 10.1016/j.mimet.2020.106054
Abstract: Long-read sequencing technologies are having a major impact on our approaches to studying non-model organisms and microbial communities. By significantly reducing the cost and facilitating the genome assembly pipelines, any laboratory can now develop its… read more here.
Keywords: dna; long read; high molecular; molecular weight ... See more keywords
Breakpoint mapping of a novel de novo translocation t(X;20)(q11.1;p13) by positional cloning and long read sequencing.
Sign Up to like & getrecommendations! Published in 2018 at "Genomics"
DOI: 10.1016/j.ygeno.2018.07.005
Abstract: Disease associated chromosomal rearrangements often have break points located within disease causing genes or in their vicinity. The purpose of this study is to characterize a balanced reciprocal translocation in a girl with intellectual disability… read more here.
Keywords: mapping; long read; positional cloning; translocation ... See more keywords
Long-read sequencing data analysis for yeasts
Sign Up to like & getrecommendations! Published in 2018 at "Nature Protocols"
DOI: 10.1038/nprot.2018.025
Abstract: Long-read sequencing technologies have become increasingly popular due to their strengths in resolving complex genomic regions. As a leading model organism with small genome size and great biotechnological importance, the budding yeast Saccharomyces cerevisiae has… read more here.
Keywords: sequencing data; data analysis; long read; analysis yeasts ... See more keywords
Comparison of mitochondrial DNA variants detection using short- and long-read sequencing
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Human Genetics"
DOI: 10.1038/s10038-019-0654-9
Abstract: The recent advent of long-read sequencing technologies is expected to provide reasonable answers to genetic challenges unresolvable by short-read sequencing, primarily the inability to accurately study structural variations, copy number variations, and homologous repeats in… read more here.
Keywords: short read; long read; dna variants; mitochondrial dna ... See more keywords
A new era of long-read sequencing for cancer genomics
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Human Genetics"
DOI: 10.1038/s10038-019-0658-5
Abstract: Cancer is a disease largely caused by genomic aberrations. Utilizing many rapidly emerging sequencing technologies, researchers have studied cancer genomes to understand the molecular statuses of cancer cells and to reveal their vulnerabilities, such as… read more here.
Keywords: long read; cancer genomics; new era; era long ... See more keywords
Improved structural variant interpretation for hereditary cancer susceptibility using long-read sequencing
Sign Up to like & getrecommendations! Published in 2020 at "Genetics in Medicine"
DOI: 10.1038/s41436-020-0880-8
Abstract: Purpose Structural variants (SVs) may be an underestimated cause of hereditary cancer syndromes given the current limitations of short-read next-generation sequencing. Here we investigated the utility of long-read sequencing in resolving germline SVs in cancer… read more here.
Keywords: hereditary cancer; long read; cancer susceptibility; svs ... See more keywords
Dense and accurate whole-chromosome haplotyping of individual genomes
Sign Up to like & getrecommendations! Published in 2017 at "Nature Communications"
DOI: 10.1038/s41467-017-01389-4
Abstract: The diploid nature of the human genome is neglected in many analyses done today, where a genome is perceived as a set of unphased variants with respect to a reference genome. This lack of haplotype-level… read more here.
Keywords: linked read; dense accurate; strand seq; genome ... See more keywords