Search results for "Algorithm"

High HFE mutation incidence in idiopathic erythrocytosis.

2018

Systematic ajmaline challenge in patients with long QT 3 syndrome caused by the most common mutation: a multicentre study

2016

Aims Overlap syndromes of long QT 3 syndrome (LQT3) and the Brugada syndrome (BrS) have been reported. Identification of patients with an overlapping phenotype is crucial before initiation of Class I antiarrhythmic drugs for LQT3. Aim of the present study was to elucidate the yield of ajmaline challenge in unmasking the Brugada phenotype in patients with LQT3 caused by the most common mutation, SCN5A-E1784K. Methods and results Consecutive families in tertiary referral centres diagnosed with LQT3 caused by SCN5A-E1784K were included in the study. Besides routine clinical work-up, ajmaline challenge was performed after informed consent. A total of 23 subjects (11 female, mean age 27 ± 14 yea…

Penalized classification for optimal statistical selection of markers from high-throughput genotyping: application in sheep breeds

2018

The identification of individuals’ breed of origin has several practical applications in livestock and is useful in different biological contexts such as conservation genetics, breeding and authentication of animal products. In this paper, penalized multinomial regression was applied to identify the minimum number of single nucleotide polymorphisms (SNPs) from high-throughput genotyping data for individual assignment to dairy sheep breeds reared in Sicily. The combined use of penalized multinomial regression and stability selection reduced the number of SNPs required to 48. A final validation step on an independent population was carried out obtaining 100% correctly classified individuals. …

Postzygotic BRAF p.Lys601Asn Mutation in Phacomatosis Pigmentokeratotica with Woolly Hair Nevus and Focal Cortical Dysplasia

2016

International audience

Statistical Explorations and Univariate Timeseries Analysis on COVID-19 Datasets to Understand the Trend of Disease Spreading and Death

2020

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Assessment of Muscular Fitness as a Predictor of Flight Duty Limitation.

2018

Introduction The high acceleration (Gz) exposure among military pilots flying fighter aircraft has been associated with an increased risk for cervical and lumbar disorders. It has been suggested that an adequate level of physical performance could reduce the risk of experiencing these disorders. The Finnish Air Force has for several years used aerobic (bicycle ergometer) and muscular fitness tests (battery of five tests) in the selection process of military pilot candidates in order to evaluate their physical fitness level. The aim of the study was to determine if these selection phase tests and anthropometry measures can predispose those individuals who might be at risk of developing sever…

Comparison of CRISPR and marker based methods for the engineering of phage T7

2020

With the recent rise in interest in using lytic bacteriophages as therapeutic agents, there is an urgent requirement to understand their fundamental biology to enable the engineering of their genomes. Current methods of phage engineering rely on homologous recombination, followed by a system of selection to identify recombinant phages. For bacteriophage T7, the host genescmkortrxhave been used as a selection mechanism along with both type I and II CRISPR systems to select against wild-type phage and enrich for the desired mutant. Here we systematically compare all three systems; we show that the use of marker-based selection is the most efficient method and we use this to generate multiple …

The GATA3 X308_Splice breast cancer mutation is a hormone context-dependent oncogenic driver

2019

AbstractAs the catalogue of oncogenic driver mutations is expanding, it is becoming clear that alterations in a given gene should not be lumped into one single class, since they might have different functions. The transcription factorGATA3is a paradigm of this. Here, we address the functions of the most commonGATA3mutation (X308_Splice) which generates a neoprotein that we designate as neoGATA3, associated with good patient prognosis. Based on extensive analyses of molecular and clinical data from approximately 3000 breast cancer patients, supported by mechanistic studiesin vitro, we show that neoGATA3 interferes with the transcriptional programs controlled by estrogen and progesterone rece…

A matching task as a potential technique for descriptive profile validation

2003

If panellists can successfully match products to the corresponding descriptive profiles, then the profiles can be regarded as product-relevant and valid. This work examined the ability of a trained panel to perform a matching task between products and their descriptive profiles. A 13-member panel, trained to assess eight cheeses in terms of 19 flavour attributes, performed the task based on their individually developed profiles. The panel's ability to match products to profiles was well above that expected by chance, and chi-square statistics for each of the products were significant (P<0.05). A correspondence analysis based on the group results indicated that all the products were relative…

Low-cost scalable discretization, prediction and feature selection for complex systems

2019

The introduced data-driven tool allows simultaneous feature selection, model inference, and marked cost and quality gains.