Results 11 to 20 of about 9,152,640 (254)

Deciphering transcriptome complexity via long‐read sequencing [PDF]

iMeta
Transcriptomics is moving beyond gene‐level quantification toward isoform‐resolved interrogation of alternative splicing, transcript structural variation, and repeat‐derived transcription.
Chuwen Xu, Jia Li, Chenxi Yin, Keying Li, Tian Wang, Shiwen Gao, Yue Yu, Cheng Chang, Ye Wang, Guoqing Tong, Liang Gong, Wen Hu, Guoliang Chai, Yilai Han, Qian Qin, Suoqin Jin, Xiufen Zou, Bo Li, Tianyuan Zhang, Ana Conesa, Yunhao Wang, Dingjie Wang   +21 more
doaj   +2 more sources

Long-read sequencing for brain tumors [PDF]

Frontiers in Oncology
Brain tumors and genomics have a long-standing history given that glioblastoma was the first cancer studied by the cancer genome atlas. The numerous and continuous advances through the decades in sequencing technologies have aided in the advanced ...
William J. Shelton, Sara Zandpazandi, J Stephen Nix, Murat Gokden, Michael Bauer, Katie Rose Ryan, Christopher P. Wardell, Olena Morozova Vaske, Analiz Rodriguez   +8 more
doaj   +2 more sources

Migrating to Long-Read Sequencing for Clinical Routine TKI Resistance Mutation Screening

Cancer Informatics, 2022
Objective: The aim of this project was to implement long-read sequencing for BCR-ABL1 TKI resistance mutation screening in a clinical setting for patients undergoing treatment for chronic myeloid leukemia.
Wesley Schaal, Adam Ameur, Ulla Olsson-Strömberg, Monica Hermanson, Lucia Cavelier, Ola Spjuth   +5 more
doaj   +2 more sources

Why Are Long-Read Sequencing Methods Revolutionizing Microbiome Analysis?

Microorganisms
Most of the knowledge available on the composition and functionality of microbial communities in different ecosystems comes from short-read sequencing methods.
Adriana González, Asier Fullaondo, Adrian Odriozola   +2 more
doaj   +2 more sources

The application of long-read sequencing in clinical settings [PDF]

Human Genomics, 2023
Long-read DNA sequencing technologies have been rapidly evolving in recent years, and their ability to assess large and complex regions of the genome makes them ideal for clinical applications in molecular diagnosis and therapy selection, thereby ...
Josephine B. Oehler, Helen Wright, Zornitza Stark, Andrew J. Mallett, Ulf Schmitz   +4 more
doaj   +2 more sources

Identification of the Novel HLA-A*02:04:03 Allele by Long-Read Sequencing Following a Short-Read Phasing Failure. [PDF]

HLA
The novel allele HLA‐A*02:04:03 was detected with long‐read sequencing but failed to be detected by short‐read sequencing.
Nørgaard M, Koefoed-Nielsen P.
europepmc   +2 more sources

Identification of Protein Isoforms Using Reference Databases Built from Long and Short Read RNA-Sequencing

, 2022
Alternative splicing can lead to distinct protein isoforms. These can have different functions in specific cells and tissues or in different developmental stages.
Aidan P. Tay (1538278), Joshua J. Hamey (1471225), Gabriella E. Martyn (12634612), Laurence O. W. Wilson (5506655), Marc R. Wilkins (144999)   +4 more
core   +4 more sources

Annotation of Full-Length Long Noncoding RNAs with Capture Long-Read Sequencing (CLS). [PDF]

, 2021
Metazoan genomes produce thousands of long-noncoding RNAs (lncRNAs), of which just a small fraction have been well characterized. Understanding their biological functions requires accurate annotations, or maps of the precise location and structure of ...
Sílvia Carbonell Sala, Guigó Serra, Roderic, Roderic Guigó, Barbara Uszczyńska-Ratajczak, Johnson, Rory, Carbonell Sala, Sílvia, Julien Lagarde, Lagarde, Julien, Rory Johnson, Guigó, Roderic, Uszczyńska-Ratajczak, Barbara   +10 more
core   +1 more source

Long-read genome and RNA sequencing resolve a pathogenic intronic germline LINE-1 insertion in APC

npj Genomic Medicine
Familial adenomatous polyposis (FAP) is caused by pathogenic germline variants in the tumor suppressor gene APC. Confirmation of diagnosis was not achieved by cancer gene panel and exome sequencing or custom array-CGH in a family with suspected FAP ...
Alexandra A. Baumann, Lisanne I. Knol, Marie Arlt, Tim Hutschenreiter, Anja Richter, Thomas J. Widmann, Marcus Franke, Karl Hackmann, Sylke Winkler, Daniela Richter, Isabel Spier, Stefan Aretz, Daniela Aust, Joseph Porrmann, Doreen William, Evelin Schröck, Hanno Glimm, Arne Jahn   +17 more
doaj   +2 more sources

Genome Analysis Methods using Long Read Nanopore Sequencing [PDF]

, 2021
Third-generation long-read technologies denote the latest progression in high throughput DNA and RNA sequence analysis. Complementing the widespread second-generation short-read platforms, long-read sequencing adds unique application opportunities by ...
Giesselmann, Pay, Gießelmann, P. ; https://orcid.org/   +1 more
core   +1 more source