Long‐read whole‐genome sequencing for the genetic diagnosis of dystrophinopathies
Sign Up to like & getrecommendations! Published in 2020 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.51201
Abstract: The precise genetic diagnosis of dystrophinopathies can be challenging, largely due to rare deep intronic variants and more complex structural variants (SVs). We report on the genetic characterization of a dystrophinopathy patient. He remained without… read more here.
Keywords: whole genome; long read; genetic diagnosis; read whole ... See more keywords
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 genotyping with SLANG (Simple Long‐read loci Assembly of Nanopore data for Genotyping)
Sign Up to like & getrecommendations! Published in 2022 at "Applications in Plant Sciences"
DOI: 10.1002/aps3.11484
Abstract: Abstract Premise Most phylogenomic library preparation methods and bioinformatic analysis tools in restriction site–associated DNA sequencing (RADseq)/genotyping‐by‐sequencing (GBS) studies are designed for use with Illumina data. The lack of alternative bioinformatic pipelines hinders the exploration… read more here.
Keywords: simple long; nanopore data; loci assembly; assembly nanopore ... See more keywords
Long‐read HiFi sequencing of NUDT15: Phased full‐gene haplotyping and pharmacogenomic allele discovery
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24457
Abstract: To determine the phase of NUDT15 sequence variants for more comprehensive star (*) allele diplotyping, we developed a novel long‐read single‐molecule real‐time HiFi amplicon sequencing method. A 10.5 kb NUDT15 amplicon assay was validated using… read more here.
Keywords: read hifi; hifi; full gene; long read ... 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
Long-Read Amplicon Sequencing of Nitric Oxide Dismutase (nod) Genes Reveal Diverse Oxygenic Denitrifiers in Agricultural Soils and Lake Sediments
Sign Up to like & getrecommendations! Published in 2020 at "Microbial Ecology"
DOI: 10.1007/s00248-020-01482-0
Abstract: Microorganisms play an essential role in nitrogen cycling and greenhouse gas emissions in soils and sediments. The recently discovered oxygenic denitrifiers are proposed to reduce nitrate and nitrite via nitric oxide dismutation directly to N… read more here.
Keywords: dismutase; long read; oxygenic denitrifiers; nitric oxide ... See more keywords
Multiplexed Non-barcoded Long-Read Sequencing and Assembling Genomes of Bacillus Strains in Error-Free Simulations
Sign Up to like & getrecommendations! Published in 2019 at "Current Microbiology"
DOI: 10.1007/s00284-019-01808-3
Abstract: The generation of genomic data from microorganisms has revolutionized our abilities to understand their biology, but it is still challenging to obtain complete genome sequences of microbes in an automated high-throughput and cost-effective manner. While… read more here.
Keywords: genomic sequencing; multiplexed non; long read; free simulations ... See more keywords
Variant haplophasing by long-read sequencing: a new approach to preimplantation genetic testing workups.
Sign Up to like & getrecommendations! Published in 2021 at "Fertility and sterility"
DOI: 10.1016/j.fertnstert.2021.04.012
Abstract: OBJECTIVE To apply long-read, third-generation sequencing as a part of a general workup strategy for performing structural rearrangement (PGT-SR) and monogenic disease (PGT-M) embryo testing. DESIGN Prospective study. SETTING In vitro fertilization unit. PATIENT(S) Couples presenting… read more here.
Keywords: genetic testing; long read; variant haplophasing; pgt ... See more keywords
Implications of Error-Prone Long-Read Whole-Genome Shotgun Sequencing on Characterizing Reference Microbiomes
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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
Nanopore ultra-long read sequencing technology for antimicrobial resistance detection in Mannheimia haemolytica.
Sign Up to like & getrecommendations! Published in 2019 at "Journal of microbiological methods"
DOI: 10.1016/j.mimet.2019.03.001
Abstract: Disruptive innovations in long-range, cost-effective direct template nucleic acid sequencing are transforming clinical and diagnostic medicine. A multidrug resistant strain and a pan-susceptible strain of Mannheimia haemolytica, isolated from pneumonic bovine lung samples, were sequenced… read more here.
Keywords: medicine; ultra long; long read; mannheimia haemolytica ... 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