Clinical Long-Read Sequencing Test for Genetic Disease Diagnosis
Sign Up to like & getrecommendations! Published in 2025 at "JAMA Pediatrics"
DOI: 10.1001/jamapediatrics.2025.3320
Abstract: This diagnostic study examines the diagnostic yield and turnaround time of long-read sequencing compared to standard-of-care approaches. read more here.
Keywords: sequencing test; clinical long; genetic disease; read sequencing ... See more keywords
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
The Utility of Long‐Read Sequencing in Diagnosing Early Onset Parkinson's Disease
Sign Up to like & getrecommendations! Published in 2024 at "Annals of Neurology"
DOI: 10.1002/ana.27155
Abstract: Variants in PRKN and PINK1 are the leading cause of early‐onset autosomal recessive Parkinson's disease, yet many cases remain genetically unresolved. We previously identified a 7 megabases complex structural variant in a pair of monozygotic… read more here.
Keywords: long read; parkinson disease; early onset; read sequencing ... 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
Developing an Accurate Assay for Detection of Serum HBV RNA and SP1 Variant in CHB Based on Long‐Read Sequencing
Sign Up to like & getrecommendations! Published in 2025 at "Journal of Medical Virology"
DOI: 10.1002/jmv.70676
Abstract: The profiles of spliced pgRNA variants in NAs‐treated HBV‐infected patients were still unclear, and the sensitivity and accuracy of quantification of HBV RNA or spliced pgRNA variants 1 (SP1) needs improvement. In this study, we… read more here.
Keywords: hbv; read sequencing; long read; spliced pgrna ... See more keywords
Genomic analyses of an Escherichia coli and Klebsiella pneumoniae urinary tract co‐infection using long‐read nanopore sequencing
Sign Up to like & getrecommendations! Published in 2024 at "MicrobiologyOpen"
DOI: 10.1002/mbo3.1396
Abstract: Escherichia coli and Klebsiella pneumoniae isolates presenting with the same antimicrobial susceptibility profile were recovered from the same catheter sample of urine (CSU). Both strains were recovered from a patient with a long‐standing indwelling urinary… read more here.
Keywords: escherichia coli; resistance; klebsiella pneumoniae; pneumoniae ... See more keywords
Long‐Read Sequencing Identifying the Genetic Complexity of Congenital Adrenal Hyperplasia in the Pedigree
Sign Up to like & getrecommendations! Published in 2024 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.70029
Abstract: High sequence homology between CYP21A2 and CYP21A1P poses challenges to genetic diagnosis of congenital adrenal hyperplasia (CAH) due to 21‐hydroxylase deficiency (21‐OHD). Traditional genetic testing is unable to provide an accurate diagnosis due to the… read more here.
Keywords: adrenal hyperplasia; genetic complexity; congenital adrenal; long read ... 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