Search results for " Program"
showing 10 items of 3075 documents
On the Parameterization of Cartesian Genetic Programming
2020
In this work, we present a detailed analysis of Cartesian Genetic Programming (CGP) parametrization of the selection scheme ($\mu+\lambda$), and the levels back parameter l. We also investigate CGP’s mutation operator by decomposing it into a self-recombination, node function mutation, and inactive gene randomization operators. We perform experiments in the Boolean and symbolic regression domains with which we contribute to the knowledge about efficient parametrization of two essential parameters of CGP and the mutation operator.
Parentage verification of Valle del Belice dairy sheep using multiplex microsatellite panel
2013
Abstract The aim of this work was to develop and evaluate a PCR based microsatellite markers multiplex system for parentage verification of Sicilian Valle del Belice dairy sheep. A total of 85 samples of blood and hair were collected and genotyped for 24 microsatellite markers in multiplex electrophoresis runs. A total of 269 alleles were detected across the 24 loci investigated. The PIC considering all loci was equal to 0.736, showing that this microsatellite panel was very polymorphic and highly informative. A parentage test was performed on 64 families generated with multiple sires. Results indicated 20.3% and 29.7% misidentification rates for females and males, respectively. In 8 cases,…
Correspondence to Sand et al. “Critical Reappraisal of a Catechol-O-Methyltransferase Transversion Variant in Schizophrenia”
2010
DNASE1L3 Deficiency, New Phenotypes and Evidence for a Transient Type I Interferon Signaling
2021
Introduction: Deoxyribonuclease 1 like 3 (DNASE1L3) is a secreted enzyme that has been shown to digest the extracellular chromatin derived from apoptotic bodies, and DNASE1L3 pathogenic variants have been associated to a lupus phenotype. It is unclear whether interferon signaling is sustained in DNASE1L3 deficiency in humans. Objectives: Here, we report on four patients with pathogenic variations in DNASE1L3, including 2 previously undescribed causal variants, and expand the phenotype from SLE to vasculitis with gut involvement. To explore whether or not the interferon cascade was strongly and sustainably induced, Interferon stimulated genes (ISGs) expression was assessed for each patient. …
Association between previously identified disease loci at Chr 21q22 and MHC and UC in Italian population.
2009
Human blastocysts derived from monopronuclear zygotes: a biological model for the study of ploidy, euploidy, topography and heteroparental inheritance
2019
Rapid evolving RNA gene HAR1A and schizophrenia
2008
Developing the "next generation" of genetic association databases for complex diseases
2012
Tens of thousands of genetic association studies investigating the influence of common polymorphisms on disease susceptibility have been published to date. These include similar to 1,000 genome-wide association studies (GWAS). This vast amount of data in the field of complex genetics is becoming increasingly difficult to follow and interpret. It can be expected that the situation will become even more complex with the advent of association projects using next-generation technologies. One of the aims of the Human Variome Project is to concatenate such data in meaningful ways, for example, within the context of publicly available field synopses. Here, we present various examples of online gen…
Effectiveness of Healthcare Coordination in Patients with Chronic Respiratory Diseases
2018
Coordination of healthcare effectively prevents exacerbations and reduces the number of hospitalizations, emergency visits, and the mortality rate in patients with chronic respiratory diseases. The purpose of this study was to determine clinical effectiveness of ambulatory healthcare coordination in chronic respiratory patients and its effect on the level of healthcare services as an indicator of direct medical costs. We conducted a retrospective health record survey, using an online database of 550 patients with chronic respiratory diseases. There were decreases in breathing rate, heart rate, and the number of cigarettes smoked per day, and forced vital capacity (FVC) and forced expired vo…