long-read-sequencing

Documents about long-read-sequencing

• Utilizing the R2C2 Long Read Sequencing Protocol for Various Applications#983544eScholarship
• Developmental and Epileptic Encephalopathies Diagnosed Via Long-read Genome Sequencing#861640ClinicalTrials.gov
• Advancing Neurogenetic Diagnoses Through Long-Read Sequencing#895749ClinicalTrials.gov
• Long-read genome sequencing resolves the breakpoints of a chromosome 8;22 balanced translocation in NF2-related schwannomatosis#472053IRIS
• Profiling the eukaryotic diversity over a year in a lake ecosystem through short- and long-read metabarcoding#147413HAL (France)
• Benchmarking of real-time, field-deployable whole-genome sequencing of Plasmodium falciparum using Nanopore technology#430291HAL (France)
• Systematic comparisons between long-read and short-read based amplicon sequencing to characterize mixed microalgal communities.#192331bioRxiv / medRxiv
• Short-read and Long-read PCR-Free Sequencing of Bacteriophages Using Ultra-Low Starting DNA Input#326277HAL (France)
• A prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia#434773ResearchOnline@ND
• Benchmarking long-read RNA-seq across modalities, methods, and sequencing depth in iNeurons#151544bioRxiv / medRxiv
• Svirlpool: structural variant detection from long read sequencing by local assembly#407678bioRxiv / medRxiv
• PREcision Diagnostics in Rare genetIC Diseases and Tumors - Long Read Sequencing#827963ClinicalTrials.gov
• ReadChop: a high-performance demultiplexer for long-read sequencing data.#320495NCBI PubMed Central
• Table 2_Development and evaluation of a multiplex PCR-based dual-platform targeted sequencing framework for precise differentiation of lumpy skin disease virus.xlsx#482280Figshare
• Table 1_Development and evaluation of a multiplex PCR-based dual-platform targeted sequencing framework for precise differentiation of lumpy skin disease virus.xlsx#482281Figshare
• Table 3_Development and evaluation of a multiplex PCR-based dual-platform targeted sequencing framework for precise differentiation of lumpy skin disease virus.xlsx#482283Figshare
• Data Sheet 1_Development and evaluation of a multiplex PCR-based dual-platform targeted sequencing framework for precise differentiation of lumpy skin disease virus.docx#482282Figshare
• Accelerated long-read variant calling with Clair3 for whole-genome sequencing.#156913NCBI PubMed Central
• Promises and pitfalls of long-read sequencing for resolving microbial complexity.#659711NCBI PubMed Central
• Long-Read HiFi Genome Sequencing Resolves Retrotransposon-Mediated Deletions in TANGO2 Deficiency Disorder.#146078NCBI PubMed Central
• TEscape: Defining the human transposable element transcriptome using multiplatform long-read sequencing#441658bioRxiv / medRxiv
• <b>LoRTIA Plus: a chemistry-agnostic, feature-first software package for long-read transcriptome annotation</b>Item#658788Figshare
• Targeted Long-Read sequencing provides functional validation of variants predicted to alter splicing#398610Europe PMC
• Intraoperative copy number profiling from ultra-low coverage long-read sequencing for molecular tumor assessment#474718bioRxiv / medRxiv
• Direct long-read RNA sequencing uncovers functional variation affecting transcript production and RNA modifications#231425Europe PMC
• Whole-genome profiling of native 5-hydroxymethylation in human neurons with long-read sequencing#296784Europe PMC
• Draft genome assembly of the Woolly bottlebrush (Greyia radlkoferi) using Pacbio long-read sequencing technology.#314131bioRxiv / medRxiv
• Long read multi-omics sequencing reveals DNA-to-RNA evolutionary remodeling trajectories of recurrent astrocytoma#448054bioRxiv / medRxiv
• Long-read sequencing quantifies synthetic mRNA abundance, integrity and host response in vivo#682315bioRxiv / medRxiv
• ENHANCING CANCER DIAGNOSTICS: UNVEILING ONCOGENIC GENE FUSIONS WITH OXFORD NANOPORE TECHNOLOGIES LONG-READ SEQUENCING#929145ScholarlyCommons
• Table 1_Diagnostic yield of long-read sequencing for rare diseases: a systematic review.xlsx#259809Figshare
• Long-read sequencing identifies aberrant fragmentation patterns linked to elevated cell-free DNA levels in cancer#208693HAL (France)
• Transient telomere uncapping triggers telomeric and subtelomeric rearrangements#350798HAL (France)
• Long-Read Sequencing for Species-Level Resolution of the Equine Gut Microbiota Reveals the Need for Improved Databases#354157HAL (France)
• Long-read sequencing reveals diverse haplotypes and common structural variants in Alzheimer's Disease GWAS loci#387696Europe PMC
• ALPINE: a scalable pipeline for comprehensive classification of gene-editing outcomes from long-read amplicon sequencing.#396081NCBI PubMed Central
• Long-read sequencing brings the hypervariable Plasmodium falciparum genome within reach of field isolates#347879HAL (France)
• Long-read sequencing reveals diverse haplotypes and common structural variants in Alzheimer's Disease GWAS loci#13875bioRxiv / medRxiv
• Benchmarking long-read RNA-seq across modalities, methods, and sequencing depth in iNeurons#154139Unpaywall
• Near-chromosome level genome assembly of the fruit pest Drosophila suzukii using long-read sequencing#425428Open Access LMU
• Fast and accurate long-read alignment with Burrows–Wheeler transform#6801OpenAlex
• Long-read sequencing with targeted assembly of the opsin locus accurately evaluates genes in expressed positions#28617bioRxiv / medRxiv
• Long-read sequencing reveals two common APOE ϵ3 and ϵ4 intragenic haplotypes in the Spanish population#183341bioRxiv / medRxiv
• Imputation of structural variants using a multi-ancestry long-read sequencing panel enables identification of disease associations#287256bioRxiv / medRxiv
• Long vs. short read sequencing for microbial ecology of sedimentary environments: a case study from Lake Arnon, Switzerland.#327076NCBI PubMed Central
• Low Depth Epigenetic Mapping of Maturation Versus Retrodifferentiation in HepaRG Cells#347757HAL (France)
• Simultaneous detection of thalassemia, hemoglobinopathies, and G6PD variants using long-read nanopore sequencing: genetic complexity and heterogeneity in Thailand.#457410NCBI PubMed Central
• Long-read genome sequencing resolves a complex structural variant involving TBCD and exposes a gap in existing variant classification frameworks#202212Europe PMC
• Long-Read Sequencing for Species-Level Resolution of the Equine Gut Microbiota Reveals the Need for Improved Databases#204959Borealis Dataverse OAI Archive
• Genomic characterization of Enterotoxigenic Escherichia coli lineage 2 (CS2 + CS3) by long-read sequencing reveals distinct lineage-specific genome organization.#236177NCBI PubMed Central