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 circRNA Detection Tools from Long-Read Sequencing Using Data-Driven and Flexible Simulation Framework#1203718HAL (France)
• Diagnostic evaluation of long-read nanopore sequencing for pediatric CNS tumors#1500387Europe PMC
• Use of Long Read Genome Sequencing in Patients Suffering From Neurodevelopmental Troubles#1370844ClinicalTrials.gov
• Benchmarking of real-time, field-deployable whole-genome sequencing of Plasmodium falciparum using Nanopore technology#430291HAL (France)
• Deciphering transcriptome complexity via long-read sequencing.#1204506NCBI PubMed Central
• 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
• Long read sequencing of retinal RNA improves killifish transcriptome annotation#1210498bioRxiv / medRxiv
• Sub-consensus haploid variant calling in long-read sequencing technology#1204851PLOS
• 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
• Yield of Long-Read Genome Sequencing for Rare Disease Diagnosis in Short-Read Genome Negative Cases#1258112bioRxiv / medRxiv
• ReadChop: a high-performance demultiplexer for long-read sequencing data.#320495NCBI PubMed Central
• seqsizzle: decoding complex barcode and adapter architectures in long-read sequencing data#1436299bioRxiv / medRxiv
• Long-read sequencing reveals putatively mobilizable resistance genes and multi-drug resistance plasmids underestimated by short-read metagenomics.#1426379NCBI 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
• Systematic benchmarking of small variant calling pipelines for long-read RNA sequencing data#1258077bioRxiv / medRxiv
• Solving Challenging Diagnoses Through Ultra-long Read Sequencing#1475868ClinicalTrials.gov
• 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
• Epigenetic profiling of preterm birth: a dual-tissue methylation patterns using long-read sequencing.#1236319NCBI PubMed Central
• Long-read sequencing enables high-accuracy mitochondrial heteroplasmy detection in Parkinson's disease.#1284780NCBI PubMed Central
• 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
• Long‐read sequencing reveals SVA insertion in AP3B1 causing Hermansky–Pudlak syndrome 2#1106668Deutsche Nationalbibliothek
• Handling biological replicates in long-read RNA sequencing data by joining or not joining.#1166985NCBI PubMed Central
• Haplotype-resolved swine leukocyte antigen (SLA) gene typing using long-read whole genome sequencing.#1513474NCBI PubMed Central
• Table 1_Diagnostic yield of long-read sequencing for rare diseases: a systematic review.xlsx#259809Figshare
• NGS-Based Genetic Approach to Identify Rare Lysosomal Storage Disorders in Patients With Neurological Manifestations#1246543ClinicalTrials.gov
• 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)