Results 41 to 50 of about 327,413 (252)

Identifying and correcting repeat-calling errors in nanopore sequencing of telomeres

Genome Biology, 2022
Nanopore long-read sequencing is an emerging approach for studying genomes, including long repetitive elements like telomeres. Here, we report extensive basecalling induced errors at telomere repeats across nanopore datasets, sequencing platforms ...
Kar-Tong Tan, Michael K. Slevin, Matthew Meyerson, Heng Li   +3 more
doaj   +1 more source

Benchmarking of long-read correction methods [PDF]

NAR Genomics and Bioinformatics, 2020
AbstractThird-generation sequencing technologies provided by Pacific Biosciences and Oxford Nanopore Technologies generate read lengths in the scale of kilobasepairs. However, these reads display high error rates, and correction steps are necessary to realize their great potential in genomics and transcriptomics.
Dohm, Juliane C, Peters, Philipp, Stralis-Pavese, Nancy, Himmelbauer, Heinz   +3 more
openaire   +2 more sources

Towards Reading Comprehension for Long Documents [PDF]

Proceedings of the Twenty-Seventh International Joint Conference on Artificial Intelligence, 2018
Machine reading comprehension has gained attention from both industry and academia. It is a very challenging task that involves various domains such as language comprehension, knowledge inference, summarization, etc. Previous studies mainly focus on reading comprehension on short paragraphs, and these approaches fail to perform well on the documents ...
Yuanxing Zhang, Yangbin Zhang, Kaigui Bian, Xiaoming Li 0001   +3 more
openaire   +1 more source

Overcoming uncollapsed haplotypes in long-read assemblies of non-model organisms

BMC Bioinformatics, 2021
Background Long-read sequencing is revolutionizing genome assembly: as PacBio and Nanopore technologies become more accessible in technicity and in cost, long-read assemblers flourish and are starting to deliver chromosome-level assemblies.
Nadège Guiglielmoni, Antoine Houtain, Alessandro Derzelle, Karine Van Doninck, Jean-François Flot   +4 more
doaj   +1 more source

Correcting palindromes in long reads after whole-genome amplification

BMC Genomics, 2018
Background Next-generation sequencing requires sufficient DNA to be available. If limited, whole-genome amplification is applied to generate additional amounts of DNA.
Sven Warris, Elio Schijlen, Henri van de Geest, Rahulsimham Vegesna, Thamara Hesselink, Bas te Lintel Hekkert, Gabino Sanchez Perez, Paul Medvedev, Kateryna D. Makova, Dick de Ridder   +9 more
doaj   +1 more source

Megabase-scale methylation phasing using nanopore long reads and NanoMethPhase

Genome Biology, 2021
The ability of nanopore sequencing to simultaneously detect modified nucleotides while producing long reads makes it ideal for detecting and phasing allele-specific methylation. However, there is currently no complete software for detecting SNPs, phasing
Vahid Akbari, Jean-Michel Garant, Kieran O’Neill, Pawan Pandoh, Richard Moore, Marco A. Marra, Martin Hirst, Steven J. M. Jones   +7 more
doaj   +1 more source

Early Impact of Childhood Opportunity on Neurocognitive Outcomes in Sickle Cell Disease

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction Neurocognitive impairment is a well‐recognized complication of sickle cell disease (SCD) that begins early in childhood and persists across development. While cerebrovascular injury contributes substantially to risk, neurocognitive deficits are also observed in children without overt or silent cerebral infarctions, suggesting ...
Julia E. LaMotte, Hannah Koch, Olivia A. Coughlin, Jillian R. Bouck, Allie Carter, Seethal A. Jacob   +5 more
wiley   +1 more source

Association Between Dinutuximab Beta Exposure and Post‐End‐of‐Treatment Survival in Neuroblastoma: A Weighted Patient‐Level Analysis of Three Clinical Studies

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Objectives The association between exposure to dinutuximab beta (DB) and event‐free survival (EFS) or overall survival (OS) of neuroblastoma patients was assessed using data collected during three clinical trials (five cohorts). Methods A systematic review (March 2026) was conducted to identify relevant studies (prospective; registered DB ...
Przemysław Holko, Holger N. Lode, Alberto Garaventa, Carla Manzitti, Roberto Luksch, Dominique Valteau‐Couanet, Marion Gambart, John Anderson, Juliet Gray, Adela Canete, Lucas Moreno, Aleksandra Wieczorek, Cormac Owens, Shifra Ash, Isaac Yaniv, Genevieve Laureys, Hans Loibner, Katarzyna Śladowska, Ruth Ladenstein, Paweł Kawalec   +19 more
wiley   +1 more source

SMARTdenovo: a de novo assembler using long noisy reads

GigaByte, 2021
Long-read single-molecule sequencing has revolutionized de novo genome assembly and enabled the automated reconstruction of reference-quality genomes. It has also been widely used to study structural variants, phase haplotypes and more. Here,
Hailin Liu , Shigang Wu , Alun Li , Jue Ruan   +3 more
doaj   +1 more source

Reading for life-long health

Frontiers in Pediatrics
There is a strong, positive relationship between childhood literacy and physical and mental health outcomes in adulthood. Through primary care-based literacy interventions, pediatricians reach children and their families long before they enter traditional education venues. In so doing, pediatricians play a key role in children's school readiness and in
Kaiulani Shulman, Karen Baicker, Linda Mayes   +2 more
openaire   +3 more sources