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Related Concept Videos

Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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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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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.
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Genomics

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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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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
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TSPLASSO: A Two-stage Prior LASSO Algorithm for Gene Selection using Omics Data.

Sijia Yang, Shunjie Chen, Pei Wang

    IEEE Journal of Biomedical and Health Informatics
    |October 23, 2023
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    Summary
    This summary is machine-generated.

    This study introduces TSPLASSO, a novel two-stage feature selection method that effectively identifies cancer genes from omics data by incorporating prior knowledge. TSPLASSO significantly enhances gene selection accuracy and sample classification for improved cancer research.

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    Area of Science:

    • Genomics
    • Bioinformatics
    • Computational Biology

    Background:

    • Feature selection is crucial for identifying cancer genes from omics data.
    • Existing methods often overlook valuable prior knowledge about known cancer genes.
    • Integrating prior cancer gene information can enhance the accuracy of feature selection.

    Purpose of the Study:

    • To propose a novel two-stage prior LASSO (TSPLASSO) method for cancer gene identification.
    • To leverage prior knowledge of known cancer genes in the feature selection process.
    • To simultaneously perform cancer gene selection and sample classification using omics data.

    Main Methods:

    • TSPLASSO employs a two-stage approach using LASSO regression.
    • Stage one uses linear regression to select candidate genes correlated with prior cancer genes.
    • Stage two uses logistic regression for final gene selection and sample classification.

    Main Results:

    • TSPLASSO demonstrated significant improvements (5%-400%) in variable selection accuracy across multiple datasets.
    • The method showed robustness against data noise and variations in prior cancer gene information.
    • TSPLASSO outperformed six state-of-the-art algorithms in accuracy and stability.

    Conclusions:

    • TSPLASSO offers an efficient, stable, and practical algorithm for cancer gene discovery from omics data.
    • The method effectively integrates prior biological knowledge into feature selection.
    • TSPLASSO advances biomedical and health informatics by improving the analysis of omics data.