Results 41 to 50 of about 308,842 (252)

An Overview of the Application of Deep Learning in Short Read Sequence Classification [PDF]

Information Technology and Management Science, 2020
Abstract Advances in sequencing technology have led to an ever increasing amount of available short read sequencing data. This has, consequently, exacerbated the need for efficient and precise classification tools that can be used in the analysis of this data.
Kristaps Bebris, Inese Polaka
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POPULATION SEQUENCING USING SHORT READS: HIV AS A CASE STUDY [PDF]

Biocomputing 2008, 2007
Despite many drawbacks, traditional sequencing technologies have proven to be invaluable in modern medical research, even when the targeted genomes are highly variable. While it is often known in such cases that multiple slightly different sequences are present in the analyzed sample in concentrations that vary dramatically, the traditional techniques ...
Vladimir Jojic, Tomer Hertz, Nebojsa Jojic   +2 more
openaire   +2 more sources

Full-length 16S rRNA gene amplicon analysis of human gut microbiota using MinION™ nanopore sequencing confers species-level resolution

BMC Microbiology, 2021
Background Species-level genetic characterization of complex bacterial communities has important clinical applications in both diagnosis and treatment. Amplicon sequencing of the 16S ribosomal RNA (rRNA) gene has proven to be a powerful strategy for the ...
Yoshiyuki Matsuo, Shinnosuke Komiya, Yoshiaki Yasumizu, Yuki Yasuoka, Katsura Mizushima, Tomohisa Takagi, Kirill Kryukov, Aisaku Fukuda, Yoshiharu Morimoto, Yuji Naito, Hidetaka Okada, Hidemasa Bono, So Nakagawa, Kiichi Hirota   +13 more
doaj   +1 more source

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, Gabriela A Haddad, Johnathon M Hall, Alexander J Ruthenburg   +3 more
doaj   +1 more source

Software for pre-processing Illumina next-generation sequencing short read sequences [PDF]

Source Code for Biology and Medicine, 2014
When compared to Sanger sequencing technology, next-generation sequencing (NGS) technologies are hindered by shorter sequence read length, higher base-call error rate, non-uniform coverage, and platform-specific sequencing artifacts. These characteristics lower the quality of their downstream analyses, e.g.
Chuming Chen, Sari S. Khaleel, Hongzhan Huang, Cathy H. Wu   +3 more
openaire   +2 more sources

Genome sequencing in cytogenetics: Comparison of short‐read and linked‐read approaches for germline structural variant detection and characterization

Molecular Genetics & Genomic Medicine, 2020
Background Structural variants (SVs) include copy number variants (CNVs) and apparently balanced chromosomal rearrangements (ABCRs). Genome sequencing (GS) enables SV detection at base‐pair resolution, but the use of short‐read sequencing is limited by ...
Kévin Uguen, Claire Jubin, Yannis Duffourd, Claire Bardel, Valérie Malan, Jean‐Michel Dupont, Laila El Khattabi, Nicolas Chatron, Antonio Vitobello, Pierre‐Antoine Rollat‐Farnier, Céline Baulard, Marc Lelorch, Aurélie Leduc, Emilie Tisserant, Frédéric Tran Mau‐Them, Vincent Danjean, Marc Delepine, Marianne Till, Vincent Meyer, Stanislas Lyonnet, Anne‐laure Mosca‐Boidron, Julien Thevenon, Laurence Faivre, Christel Thauvin‐Robinet, Caroline Schluth‐Bolard, Anne Boland, Robert Olaso, Patrick Callier, Serge Romana, Jean‐François Deleuze, Damien Sanlaville   +30 more
doaj   +1 more source

Testing assembly strategies of Francisella tularensis genomes to infer an evolutionary conservation analysis of genomic structures

BMC Genomics, 2021
Background We benchmarked sequencing technology and assembly strategies for short-read, long-read, and hybrid assemblers in respect to correctness, contiguity, and completeness of assemblies in genomes of Francisella tularensis.
Kerstin Neubert, Eric Zuchantke, Robert Maximilian Leidenfrost, Roebbe Wuenschiers, Josephine Grützke, Burkhard Malorny, Holger Brendebach, Sascha Al Dahouk, Timo Homeier, Helmut Hotzel, Knut Reinert, Herbert Tomaso, Anne Busch   +12 more
doaj   +1 more source

Constructing a draft Indian cattle pangenome using short-read sequencing. [PDF]

Commun Biol
Abstract Indian desi cattle, known for their adaptability and phenotypic diversity, represent a valuable genetic resource. However, a single reference genome often fails to capture the full extent of their genetic variation. To address this, we construct a pangenome for
Azam S, Sahu A, Pandey NK, Neupane M, Van Tassell CP, Rosen BD, Gandham RK, Rath SN, Majumdar SS.   +8 more
europepmc   +4 more sources

Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data [PDF]

The American Journal of Human Genetics, 2018
Repeat expansions cause more than 30 inherited disorders, predominantly neurogenetic. These can present with overlapping clinical phenotypes, making molecular diagnosis challenging. Single-gene or small-panel PCR-based methods can help to identify the precise genetic cause, but they can be slow and costly and often yield no result.
Tankard, R.M., Bennett, M.F., Degorski, P., Delatycki, M.B., Lockhart, P.J., Bahlo, M.   +5 more
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Indel variant analysis of short-read sequencing data with Scalpel [PDF]

Nature Protocols, 2016
As the second most common type of variation in the human genome, insertions and deletions (indels) have been linked to many diseases, but the discovery of indels of more than a few bases in size from short-read sequencing data remains challenging. Scalpel (http://scalpel.sourceforge.net) is an open-source software for reliable indel detection based on ...
Han Fang, Ewa A Bergmann, Kanika Arora, Vladimir Vacic, Michael C Zody, Ivan Iossifov, Jason A O'Rawe, Yiyang Wu, Laura T Jimenez Barron, Julie Rosenbaum, Michael Ronemus, Yoon-ha Lee, Zihua Wang, Esra Dikoglu, Vaidehi Jobanputra, Gholson J Lyon, Michael Wigler, Michael C Schatz, Giuseppe Narzisi   +18 more
openaire   +2 more sources