Results 21 to 30 of about 1,069,421 (301)
MCMAS-SLK: A Model Checker for the Verification of Strategy Logic Specifications [PDF]
, 2014 We introduce MCMAS-SLK, a BDD-based model checker for the verification of systems against specifications expressed in a novel, epistemic variant of strategy logic.
Lomuscio, Alessio +3 more
core +2 more sources
VarDict: a novel and versatile variant caller for next-generation sequencing in cancer research [PDF]
, 2016 Accurate variant calling in next generation sequencing (NGS) is critical to understand cancer genomes better. Here we present VarDict, a novel and versatile variant caller for both DNA- and RNA-sequencing data.
Ahdesmaki, Miika +9 more
core +2 more sources
Waveform considerations in space-variant optical processors [PDF]
, 1978 The use of coded waveforms in space-variant optical signal processors using coordinate transformations is considered. It is shown that nonlinear transmitted coded signals must be used with such a processor and that this results in novel waveform design ...
Casasent, David, Psaltis, Demetri
core +1 more source
Novel Homozygous PADI6 Variants in Infertile Females with Early Embryonic Arrest
Frontiers in Cell and Developmental Biology, 2022 Early embryonic arrest denotes premature termination of development in preimplantation embryos, which is one of the major phenotypes of recurrent assisted reproduction failure.
Yao Xu +11 more
doaj +1 more source
Frontiers in Oncology, 2021 BackgroundWe report the case of a woman with non-Hodgkin lymphoma who remained positive on the molecular assay for SARS-CoV-2 for six months: she has never experienced a severe form of COVID-19 although in absence of seroconversion.MethodsThe whole SARS ...
Ettore Capoluongo +16 more
doaj +1 more source
FARS2 mutations presenting with pure spastic paraplegia and lesions of the dentate nuclei. [PDF]
, 2018 Mutations in FARS2, the gene encoding the mitochondrial phenylalanine-tRNA synthetase (mtPheRS), have been linked to a range of phenotypes including epileptic encephalopathy, developmental delay, and motor dysfunction.
Au, Margaret G +6 more
core +2 more sources
The tao of MPS: Common novel variants [PDF]
Forensic Science International: Genetics Supplement Series, 2017 Abstract The introduction of massively parallel sequencing (MPS) to forensic genetics has led to improvements in multiple aspects of DNA analysis, however additional complexities are concurrently associated with these advances. In relation to STR analysis, the move to assign alleles using sequence rather than length based methodologies has highlighted
Devesse, L. A. +6 more
openaire +4 more sources
Identification of a novel human E-Cadherin splice variant andassessment of its effects upon EMT-related events [PDF]
, 2018 Epithelial Cadherin (E-cadherin) is involved in calcium-dependent cell-cell adhesion and signal transduction. The E-cadherin decrease/loss is a hallmark of Epithelial to Mesenchymal Transition (EMT), a key event in tumor progression.
Besso, María José +8 more
core +1 more source
Frontiers in Genetics, 2022 Rubinstein–Taybi Syndrome (RSTS) is a rare congenital disease with distinctive facial features, broadening of the thumbs and halluces, and developmental delay. RSTS is caused by de novo genetic alterations in CREBBP and the homologous EP300 genes.
Yu-Rong Lee +15 more
doaj +1 more source
Novel variant of common variable immunodeficiency [PDF]
BMJ Case Reports, 2017 A 57-year-old woman with frequent respiratory infections was initially diagnosed with IgG subclass deficiency based on low levels of IgG subclasses 2 and 3. Three years later, she progressed to having IgA deficiency as well. With a normal total IgG level, she does not meet criteria for common variable immunodeficiency (CVID).
openaire +2 more sources