Results 41 to 50 of about 395,684 (337)
Genome Research, 2018 Stargardt disease is caused by variants in the ABCA4 gene, a significant part of which are noncanonical splice site (NCSS) variants. In case a gene of interest is not expressed in available somatic cells, small genomic fragments carrying potential ...
Riccardo Sangermano +12 more
semanticscholar +1 more source
Effects of Grout Compactness on the Tensile Behavior of Grouted Splice Sleeve Connectors
Applied Sciences, 2022 The quality of grouted sleeve has a significant influence on the performance of the sleeve splice. Incompactness of the infilled grout is inevitable in sleeve grouting.
Zhangrong Zhang +3 more
doaj +1 more source
ASJA: A Program for Assembling Splice Junctions Analysis
Computational and Structural Biotechnology Journal, 2019 RNA splicing may generate different kinds of splice junctions, such as linear, back-splice and fusion junctions. Only a limited number of programs are available for detection and quantification of splice junctions.
Jingjing Zhao +5 more
doaj +1 more source
SpliceRover: interpretable convolutional neural networks for improved splice site prediction
Bioinform., 2018 Motivation: During the last decade, improvements in high‐throughput sequencing have generated a wealth of genomic data. Functionally interpreting these sequences and finding the biological signals that are hallmarks of gene function and regulation is ...
Jasper Zuallaert +5 more
semanticscholar +1 more source
MapSplice: Accurate mapping of RNA-seq reads for splice junction discovery
Nucleic Acids Research, 2010 The accurate mapping of reads that span splice junctions is a critical component of all analytic techniques that work with RNA-seq data. We introduce a second generation splice detection algorithm, MapSplice, whose focus is high sensitivity and ...
Kai Wang +13 more
semanticscholar +1 more source
Parent‐to‐Child Information Disclosure in Pediatric Oncology
Pediatric Blood &Cancer, EarlyView.ABSTRACT Background Despite professional consensus regarding the importance of open communication with pediatric cancer patients about their disease, actual practice patterns of disclosure are understudied. Extant literature suggests a significant proportion of children are not told about their diagnosis/prognosis, which is purported to negatively ...
Rachel A. Kentor +12 more
wiley +1 more source
EnsembleSplice: ensemble deep learning model for splice site prediction
BMC Bioinformatics, 2022 Background Identifying splice site regions is an important step in the genomic DNA sequencing pipelines of biomedical and pharmaceutical research. Within this research purview, efficient and accurate splice site detection is highly desirable, and a ...
Victor Akpokiro +2 more
doaj +1 more source
Androgen receptor splice variants and prostate cancer: From bench to bedside
OncoTarget, 2017 Therapeutic interventions for advanced prostate cancer (PCa) center on inhibiting androgen receptor (AR) and downstream signaling pathways. Resistance to androgen deprivation therapy and/or AR antagonists is inevitable and molecular mechanisms driving ...
K. Wadosky, S. Koochekpour
semanticscholar +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 +2 more
wiley +1 more source
Noisy splicing drives mRNA isoform diversity in human cells. [PDF]
PLoS Genetics, 2010 While the majority of multiexonic human genes show some evidence of alternative splicing, it is unclear what fraction of observed splice forms is functionally relevant.
Joseph K Pickrell +3 more
doaj +1 more source