Results 41 to 50 of about 672,449 (294)

Accurate spliced alignment of long RNA sequencing reads [PDF]

Bioinformatics, 2020
Abstract Motivation Long-read RNA sequencing technologies are establishing themselves as the primary techniques to detect novel isoforms, and many such analyses are dependent on read alignments.
Kristoffer Sahlin, Veli Mäkinen
openaire   +4 more sources

The genome sequence of the Twenty-plume Moth, Alucita hexadactyla Linnaeus, 1758 [version 1; peer review: 2 approved, 1 approved with reservations]

Wellcome Open Research
We present a genome assembly from a specimen of Alucita hexadactyla (Twenty-plume Moth; Arthropoda; Insecta; Lepidoptera; Alucitidae). The genome sequence has a total length of 878.53 megabases.
David C. Lees, Caroline Eve Mitchell, Liam M. Crowley, Peter W. H. Holland   +3 more
doaj   +1 more source

Diagnostic capabilities of nanopore long‐read sequencing in muscular dystrophy

Annals of Clinical and Translational Neurology, 2022
Many individuals with muscular dystrophies remain genetically undiagnosed despite clinical diagnostic testing, including exome sequencing. Some may harbor previously undetected structural variants (SVs) or cryptic splice sites.
Christine C. Bruels, Hannah R. Littel, Audrey L. Daugherty, Seth Stafki, Elicia A. Estrella, Emily S. McGaughy, Don Truong, Jonathan P. Badalamenti, Lynn Pais, Vijay S. Ganesh, Anne O'Donnell‐Luria, Heather J. Stalker, Yang Wang, Christin Collins, Andrea Behlmann, Richard J. L. F. Lemmers, Silvère M. van derMaarel, Regina Laine, Partha S. Ghosh, Basil T. Darras, Carla D. Zingariello, Christina A. Pacak, Louis M. Kunkel, Peter B. Kang   +23 more
doaj   +1 more source

Do Read Errors Matter for Genome Assembly?

, 2016
While most current high-throughput DNA sequencing technologies generate short reads with low error rates, emerging sequencing technologies generate long reads with high error rates.
Courtade, Thomas, Shomorony, Ilan, Tse, David   +2 more
core   +1 more source

Reconstructing complex regions of genomes using long-read sequencing technology [PDF]

, 2014
Cataloged from PDF version of article.Obtaining high-quality sequence continuity of complex regions of recent segmental duplication remains one of the major challenges of finishing genome assemblies.
Can Alkan, Evan E. Eichler, Francesca Antonacci, John Huddleston, Jonas Korlach, Lawrence Hon, Maika Malig, Mark Chaisson, Megan Y. Dennis, Peter H. Sudmant, Richard K. Wilson, Stephen W. Turner, Swati Ranade, Tina A. Graves   +13 more
core   +1 more source

Jabba: hybrid error correction for long sequencing reads using maximal exact matches [PDF]

, 2015
Third generation sequencing platforms produce longer reads with higher error rates than second generation sequencing technologies. While the improved read length can provide useful information for downstream analysis, underlying algorithms are challenged
Audenaert, P., Demeester, Piet, Fostier, Jan, Heydari, Mahdi, Miclotte, Giles   +4 more
core   +1 more source

Models and information-theoretic bounds for nanopore sequencing

, 2018
Nanopore sequencing is an emerging new technology for sequencing DNA, which can read long fragments of DNA (~50,000 bases) in contrast to most current short-read sequencing technologies which can only read hundreds of bases. While nanopore sequencers can
Diggavi, Suhas, Kannan, Sreeram, Mao, Wei   +2 more
core   +1 more source

Accurate Microbiome Sequencing with Synthetic Long Read Sequencing [PDF]

, 2020
AbstractThe microbiome plays a central role in biochemical cycling and nutrient turnover of most ecosystems. Because it can comprise myriad microbial prokaryotes, eukaryotes and viruses, microbiome characterization requires high-throughput sequencing to attain an accurate identification and quantification of such co-existing microbial populations ...
Nico Chung, Marc W. Van Goethem, Melanie A. Preston, Filip Lhota, Leona Cerna, Ferran Garcia-Pichel, Vanessa Fernandes, Ana Giraldo-Silva, Hee Shin Kim, Evan Hurowitz, Michael Balamotis, Indira Wu, Tuval Ben-Yehezkel   +12 more
openaire   +1 more source

Mapping the evolution of mitochondrial complex I through structural variation

FEBS Letters, EarlyView.
Respiratory complex I (CI) is crucial for bioenergetic metabolism in many prokaryotes and eukaryotes. It is composed of a conserved set of core subunits and additional accessory subunits that vary depending on the organism. Here, we categorize CI subunits from available structures to map the evolution of CI across eukaryotes. Respiratory complex I (CI)
Dong‐Woo Shin, Tingting Chen, James A. Letts   +2 more
wiley   +1 more source

Applications of long-read sequencing to Mendelian genetics

Genome Medicine, 2023
Advances in clinical genetic testing, including the introduction of exome sequencing, have uncovered the molecular etiology for many rare and previously unsolved genetic disorders, yet more than half of individuals with a suspected genetic disorder ...
Francesco Kumara Mastrorosa, Danny E. Miller, Evan E. Eichler   +2 more
doaj   +1 more source