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Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
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Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
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Microarrays are high-throughput and relatively inexpensive assays that can be automated to analyze large quantities of data at a time. They are used in genome-wide studies to compare gene or protein expression under two varied conditions, such as healthy and diseased states. Microarrays consist of glass or silica slides on which probe molecules are covalently attached through surface functionalization. Most commonly, the slides are prepared through the chemisorption of silanes to silica...
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Screening and Predicting Multi-Omics T-ALL Core Genes Based on PU Learning.

Tao Zhang, Baoqi Huang, Bing Jia

    IEEE Transactions on Computational Biology and Bioinformatics
    |August 14, 2025
    PubMed
    Summary

    This study identifies core genes in T-cell acute lymphoblastic leukemia (T-ALL) using a novel PU bagging method. These identified genes show potential for T-ALL biomarker development and targeted therapies.

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    Area of Science:

    • Oncology
    • Bioinformatics
    • Genomics

    Background:

    • T-cell acute lymphoblastic leukemia (T-ALL) is a significant neoplastic disease.
    • Identifying key genes is crucial for understanding T-ALL pathogenesis and developing targeted therapies.

    Purpose of the Study:

    • To screen for and identify core genes associated with T-ALL.
    • To develop and validate a bioinformatics approach for T-ALL gene discovery.

    Main Methods:

    • Integrated analysis of RNA-seq, CTCF ChIP-seq, and DNA methylation datasets.
    • Application of Positive-unlabeled (PU) bagging with a multi-layer perceptron (MLP) classifier for candidate gene screening.
    • Construction of a protein-protein interaction (PPI) network and functional enrichment analysis (GO, KEGG) for core gene validation.

    Main Results:

    • Successfully screened for differentially expressed genes (DEGs) and identified candidate T-ALL related genes.
    • Utilized a PU learning approach to handle datasets with limited positive samples.
    • Validated the identified core genes through functional enrichment and literature review, confirming their relevance to T-ALL.

    Conclusions:

    • The proposed bioinformatics method effectively predicts T-ALL related core genes.
    • The identified core genes hold significant potential for future T-ALL biomarker studies and therapeutic target development.