Results 11 to 20 of about 225,232 (252)
Kermit: linkage map guided long read assembly [PDF]
Algorithms for Molecular Biology, 2019 With long reads getting even longer and cheaper, large scale sequencing projects can be accomplished without short reads at an affordable cost. Due to the high error rates and less mature tools, de novo assembly of long reads is still challenging and often results in a large collection of contigs.
Riku Walve, Pasi Rastas, Leena Salmela
openaire +4 more sources
Long-read technologies identify a hidden inverted duplication in a family with choroideremia
HGG Advances, 2021 Summary: The lack of molecular diagnoses in rare genetic diseases can be explained by limitations of current standard genomic technologies. Upcoming long-read techniques have complementary strengths to overcome these limitations, with a particular ...
Zeinab Fadaie +15 more
doaj +1 more source
SVIM: structural variant identification using mapped long reads [PDF]
Bioinformatics, 2018 Abstract Motivation Structural variants are defined as genomic variants larger than 50 bp. They have been shown to affect more bases in any given genome than single-nucleotide polymorphisms or small insertions and deletions.
Heller, David, Vingron, Martin
openaire +3 more sources
Re-examination of two diatom reference genomes using long-read sequencing
BMC Genomics, 2021 Background The marine diatoms Thalassiosira pseudonana and Phaeodactylum tricornutum are valuable model organisms for exploring the evolution, diversity and ecology of this important algal group.
Gina V. Filloramo +3 more
doaj +1 more source
Epilepsia Open, 2023 Familial adult myoclonic epilepsy (FAME) is an adult‐onset neurological disease characterized by cortical tremor, myoclonus, and seizures due to a pentanucleotide repeat expansion: a combination of pathogenic TTTCA expansion associated with a TTTTA ...
Tatiana Maroilley +8 more
doaj +1 more source
Food Chemistry: Molecular Sciences, 2023 Next-generation-sequencing (NGS) becomes increasingly important for laboratories tasked with the detection of genetically modified organisms (GMOs) in food, feed and seeds.
Steffen Pallarz +4 more
doaj +1 more source
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
Structural Refinement by Direct Mapping Reveals Assembly Inconsistencies near Hi-C Junctions
Plants, 2023 High-throughput chromosome conformation capture (Hi-C) is widely used for scaffolding in de novo assembly because it produces highly contiguous genomes, but its indirect statistical approach can introduce connection errors.
Luca Marcolungo +10 more
doaj +1 more source
ACCURATE LONG READ MAPPING USING ENHANCED SUFFIX ARRAYS [PDF]
Proceedings of the International Conference on Bioinformatics Models, Methods and Algorithms, 2011 With the rise of high throughput sequencing, new programs have been developed for dealing with the alignment of a huge amount of short read data to reference genomes. Recent developments in sequencing technology allow longer reads, but the mappers for short reads are not suited for reads of several hundreds of base pairs.
Vyverman, Michaël +4 more
openaire +3 more sources
Merging short and stranded long reads improves transcript assembly.
PLoS Computational Biology, 2023 Long-read RNA sequencing has arisen as a counterpart to short-read sequencing, with the potential to capture full-length isoforms, albeit at the cost of lower depth.
Amoldeep S Kainth +3 more
doaj +1 more source