Results 41 to 50 of about 884,746 (312)

Detection of Genomic Structural Variants from Next-Generation Sequencing Data [PDF]

, 2015
Structural variants are genomic rearrangements larger than 50?bp accounting for around 1% of the variation among human genomes. They impact on phenotypic diversity and play a role in various diseases including neurological/neurocognitive disorders and ...
D\u27Aurizio, Romina
core   +1 more source

Characterization of the human ESC transcriptome by hybrid sequencing [PDF]

, 2013
Although transcriptional and posttranscriptional events are detected in RNA-Seq data from second-generation sequencing, fulllength mRNA isoforms are not captured.
Afshar, Pegah Tootoonchi, Au, Kin Fai, Durruthy, Jens Durruthy, Lee, Lawrence, Reijo-Pera, Renee A., Schadt, Eric E., Sebastiano, Vittorio, Underwood, Jason G., van Bakel, Harm, Williams, Brian A., Wong, Wing Hung   +10 more
core   +2 more sources

Illumina and PacBio DNA sequencing data, de novo assembly and annotation of the genome of Aurantiochytrium limacinum strain CCAP_4062/1

Data in Brief, 2020
The complete genome of the thraustochytrid Aurantiochytrium limacinum strain CCAP_4062/1 was sequenced using both Illumina Novaseq 6000 and third generation sequencing technology PacBio RSII in order to obtain trustworthy assembly and annotation.
Christian Morabito, Riccardo Aiese Cigliano, Eric Maréchal, Fabrice Rébeillé, Alberto Amato   +4 more
doaj   +1 more source

Analysis of Splicing Regulation by Third-Generation Sequencing

, 2022
In Metazoa, the diversity of transcripts produced by the RNA Polymerase II is generated essentially through post-transcriptional processing of the nascent transcripts. The regulation of exon inclusion by alternative splicing is one of the main sources of this diversity, which leads to the expansion of the proteome.
Allemand, Eric, Ango, Fabrice
openaire   +2 more sources

Detecting rare thalassemia in children with anemia using third-generation sequencing

Hematology, 2023
Background In China, conventional genetic testing methods can only detect common thalassemia variants. Accurate detection of rare thalassemia is crucial for clinical diagnosis, especially for children that need long-term blood transfusion.
Zhen-Min Ren, Wu-jiao Li, Zhihao Xing, Xiao-Ying Fu, Juyan Zhang, Yun-sheng Chen, De-Fa Li   +6 more
semanticscholar   +1 more source

PaSS: a sequencing simulator for PacBio sequencing

BMC Bioinformatics, 2019
Background Third-generation sequencing platforms, such as PacBio sequencing, have been developed rapidly in recent years. PacBio sequencing generates much longer reads than the second-generation sequencing (or the next generation sequencing, NGS ...
Wenmin Zhang, Ben Jia, Chaochun Wei
doaj   +1 more source

Comparing assembly strategies for third-generation sequencing technologies across different genomes.

Genomics, 2023
The recent advent of long-read sequencing technologies, such as Pacific Biosciences (PacBio) and Oxford Nanopore technology (ONT), has led to substantial accuracy and computational cost improvements.
Elena Espinosa, R. Bautista, I. Fernandez, R. Larrosa, E. Zapata, O. Plata   +5 more
semanticscholar   +1 more source

Clinical actionability of comprehensive genomic profiling for management of rare or refractory cancers [PDF]

, 2016
Background. The frequency with which targeted tumor sequencing results will lead to implemented change in care is unclear. Prospective assessment of the feasibility and limitations of using genomic sequencing is critically important. Methods.
Aisner, Joseph, Ali, Siraj M., Belyi, Vladimir, Bertino, Joseph R., Chan, Chang S., Chen, Suzie, DiPaola, Robert S., Foran, David, Ganesan, Shridar, Glod, John, Goodell, Lauri, Hirshfield, Kim M., Kaufman, Howard, Mehnert, Janice, Miller, Vincent A., Moss, Rebecca A., Murphy, Susan, Palma, Norma A., Poplin, Elizabeth, Rodriguez-Rodriguez, Lorna, Ross, Jeffrey S., Stein, Mark N., Stephens, Philip J., Sun, James X., Tan, Antoinette R., Tolkunov, Denis, Vazquez, Alexei, Vig, Hetal, Yelensky, Roman, Zhong, Hua   +29 more
core   +1 more source

On the utility of RNA sample pooling to optimize cost and statistical power in RNA sequencing experiments [PDF]

, 2020
Background: In gene expression studies, RNA sample pooling is sometimes considered because of budget constraints or lack of sufficient input material. Using microarray technology, RNA sample pooling strategies have been reported to optimize both the cost
Assefa, Alemu Takele, Thas, Olivier, Vandesompele, Jo   +2 more
core   +2 more sources

Third generation sequencing transforms the way of the screening and diagnosis of thalassemia: a mini-review

Frontiers in Pediatrics, 2023
Thalassemia is an inherited blood disorder imposing a significant social and economic burden. Comprehensive screening strategies are essential for the prevention and management of this disease. Third-generation sequencing (TGS), a breakthrough technology,
Lixia Zhan, Chunrong Gui, Wei Wei, Juliang Liu, B. Gui   +4 more
semanticscholar   +1 more source