Search results for " BioInformatics."

The Relationship Between Polygenic Risk Scores and Cognition in Schizophrenia

2020

Abstract Background Cognitive impairment is a clinically important feature of schizophrenia. Polygenic risk score (PRS) methods have demonstrated genetic overlap between schizophrenia, bipolar disorder (BD), major depressive disorder (MDD), educational attainment (EA), and IQ, but very few studies have examined associations between these PRS and cognitive phenotypes within schizophrenia cases. Methods We combined genetic and cognitive data in 3034 schizophrenia cases from 11 samples using the general intelligence factor g as the primary measure of cognition. We used linear regression to examine the association between cognition and PRS for EA, IQ, schizophrenia, BD, and MDD. The results wer…

Integrative bioinformatics and omics data source interoperability in the next-generation sequencing era-Editorial.

2021

With the advent of high-throughput and next-generation sequencing (NGS) technologies [1], huge amounts of ‘omics’ data (i.e. data from genomics, proteomics, pharmacogenomics, metagenomics, etc.) are continuously produced. Combining and integrating diverse omics data types is important in order to investigate the molecular machinery of complex diseases, with the hope for better disease prevention and treatment [2]. Experimental data repositories of omics data are publicly available, with the main aim of fostering the cooperation among research groups and laboratories all over the world. However, despite their openness, the effective integrated use of available public sources is hampered by t…

Toward completion of the Earth’s proteome: an update a decade later

2017

Protein databases are steadily growing driven by the spread of new more efficient sequencing techniques. This growth is dominated by an increase in redundancy (homologous proteins with various degrees of sequence similarity) and by the incapability to process and curate sequence entries as fast as they are created. To understand these trends and aid bioinformatic resources that might be compromised by the increasing size of the protein sequence databases, we have created a less-redundant protein data set. In parallel, we analyzed the evolution of protein sequence databases in terms of size and redundancy. While the SwissProt database has decelerated its growth mostly because of a focus on i…

On Obtaining Classification Confidence, Ranked Predictions and AUC with Tsetlin Machines

2020

Tsetlin machines (TMs) are a promising approach to machine learning that uses Tsetlin Automata to produce patterns in propositional logic, leading to binary (hard) classifications. In many applications, however, one needs to know the confidence of classifications, e.g. to facilitate risk management. In this paper, we propose a novel scheme for measuring TM confidence based on the logistic function, calculated from the propositional logic patterns that match the input. We then use this scheme to trade off precision against recall, producing area under receiver operating characteristic curves (AUC) for TMs. Empirically, using four real-world datasets, we show that AUC is a more sensitive meas…

Ad-Hoc Segmentation Pipeline for Microarray Image Analysis

2006

Microarray is a new class of biotechnologies able to help biologist researches to extrapolate new knowledge from biological experiments. Image Analysis is devoted to extrapolate, process and visualize image information. For this reason it has found application also in Microarray, where it is a crucial step of this technology (e.g. segmentation). In this paper we describe MISP (Microarray Image Segmentation Pipeline), a new segmentation pipeline for Microarray Image Analysis. The pipeline uses a recent segmentation algorithm based on statistical analysis coupled with K-Means algorithm. The Spot masks produced by MISP are used to determinate spots information and quality measures. A software …

INVESTIGATION ON THE GENETIC BASIS OF ENVIRONMENTAL STRESS IN FRUIT TREE CROPS

2021

Plant stress can be divided into two major categories: abiotic stress and biotic stress. Abiotic stress happens when plants are exposed to the environment either physically or chemically. There is an emergency in developing crop varieties that are tolerant to abiotic stresses to ensure food security and safety in the coming years. Multiple abiotic stress like drought, heat, frost at flowering and nutrient deficiency can cause an erratic fruiting behavior or following extreme events, the death of the plants. Plants require an optimal level of nutrients and essential minerals for their growth and development that are mainly acquired from soil by their roots. Nutrient deficiency is an environm…

New insights of epithelial-to-mesenchymal transition (EMT) signature in breast cancer

2023

Modelling and Simulation in Science, Proceedings of the 6th International Workshop on Data Analysis in Astronomy >

2007

A Fuzzy One Class Classifier for Multi Layer Model

2009

The paper describes an application of a fuzzy one-class classifier (FOC ) for the identification of different signal patterns embedded in a noise structured background. The classification phase is applied after a preprocessing phase based on a Multi Layer Model (MLM ) that provides a preliminary signal segmentation in an interval feature space. The FOC has been tested on synthetic and real microarray data in the specific problem of DNA nucleosome and linker regions identification. Results have shown, in both cases, a good recognition rate.

Algorithmic paradigms for stability-based cluster validity and model selection statistical methods, with applications to microarray data analysis

2012

AbstractThe advent of high throughput technologies, in particular microarrays, for biological research has revived interest in clustering, resulting in a plethora of new clustering algorithms. However, model selection, i.e., the identification of the correct number of clusters in a dataset, has received relatively little attention. Indeed, although central for statistics, its difficulty is also well known. Fortunately, a few novel techniques for model selection, representing a sharp departure from previous ones in statistics, have been proposed and gained prominence for microarray data analysis. Among those, the stability-based methods are the most robust and best performing in terms of pre…