Results 21 to 30 of about 327,413 (252)
viralFlye: assembling viruses and identifying their hosts from long-read metagenomics data
Genome Biology, 2022 Although the use of long-read sequencing improves the contiguity of assembled viral genomes compared to short-read methods, assembling complex viral communities remains an open problem.
Dmitry Antipov +3 more
doaj +1 more source
SimLoRD: Simulation of Long Read Data [PDF]
Bioinformatics, 2016 Abstract Motivation: Third generation sequencing methods provide longer reads than second generation methods and have distinct error characteristics. While there exist many read simulators for second generation data, there is a very limited choice for third generation data.
Stöcker, B.K. (Bianca K.) +2 more
openaire +3 more sources
BMC Genomics, 2021 Background SNP arrays, short- and long-read genome sequencing are genome-wide high-throughput technologies that may be used to assay copy number variants (CNVs) in a personal genome.
Ksenia Lavrichenko +2 more
doaj +1 more source
Finding long tandem repeats in long noisy reads [PDF]
Bioinformatics, 2020 Abstract Motivation Long tandem repeat expansions of more than 1000 nt have been suggested to be associated with diseases, but remain largely unexplored in individual human genomes because read lengths have been too short.
Shinichi Morishita +2 more
openaire +3 more sources
BELLA: Berkeley Efficient Long-Read to Long-Read Aligner and Overlapper [PDF]
, 2018 Abstract Recent advances in long-read sequencing enable the characterization of genome structure and its intra- and inter-species variation at a resolution that was previously impossible. Detecting overlaps between reads is integral to many long-read genomics pipelines, such as de novo
Guidi, Giulia +4 more
openaire +2 more sources
CoLoRMap: Correcting Long Reads by Mapping short reads [PDF]
Bioinformatics, 2016 Abstract Motivation Second generation sequencing technologies paved the way to an exceptional increase in the number of sequenced genomes, both prokaryotic and eukaryotic. However, short reads are difficult to assemble and often lead to highly fragmented assemblies.
Ehsan Haghshenas +3 more
openaire +2 more sources
Retained introns in long RNA-seq reads are not reliably detected in sample-matched short reads
Genome Biology, 2022 Background There is growing interest in retained introns in a variety of disease contexts including cancer and aging. Many software tools have been developed to detect retained introns from short RNA-seq reads, but reliable detection is complicated by ...
Julianne K. David +4 more
doaj +1 more source
Characterization of telomere variant repeats using long reads enables allele-specific telomere length estimation. [PDF]
BMC BioinformaticsTelomeres are regions of repetitive DNA at the ends of linear chromosomes which protect chromosome ends from degradation. Telomere lengths have been extensively studied in the context of aging and disease, though most studies use average telomere lengths
Stephens Z, Kocher JP.
europepmc +2 more sources
Haplotype-aware diplotyping from noisy long reads
Genome Biology, 2019 Current genotyping approaches for single-nucleotide variations rely on short, accurate reads from second-generation sequencing devices. Presently, third-generation sequencing platforms are rapidly becoming more widespread, yet approaches for leveraging ...
Jana Ebler +4 more
doaj +1 more source
HASLR: Fast Hybrid Assembly of Long Reads
iScience, 2020 Summary: Third-generation sequencing technologies from companies such as Oxford Nanopore and Pacific Biosciences have paved the way for building more contiguous and potentially gap-free assemblies.
Ehsan Haghshenas +4 more
doaj +1 more source