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Genomics02:02

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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The issues and trends in healthcare delivery are constantly changing. The COVID-19 pandemic is one recent issue that wreaked havoc on healthcare systems, causing a shortage of healthcare workers, high demand for medicines and supplies, and increased medical expenditure due to a lack of insurance. Other issues include rising healthcare costs and care fragmentation.
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Pharmacogenomics: Identification of New Drug Targets01:29

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Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
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Pharmacogenetics and pharmacogenomics examine how genetic factors influence an individual's response to drugs. While pharmacogenetics focuses on the impact of specific genetic variants on drug effects, pharmacogenomics takes a broader approach, studying how genetic variation across populations contributes to differences in drug responses. These fields aim to explain why individuals may experience varying levels of efficacy or adverse reactions to the same medication.Variability in drug...
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Genome-wide Association Studies-GWAS01:11

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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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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Managing large-scale genomic datasets and translation into clinical practice.

T Lecroq, L F Soualmia

    Yearbook of Medical Informatics
    |August 16, 2014
    PubMed
    Summary

    This review highlights advances in bioinformatics and translational informatics, focusing on tools for managing genomic and health records. Research shows progress in variant prioritization, surname inference from genomic data, and cancer subtype discovery.

    Keywords:
    Translational medical researchbig data managementcomputational biologygene expressiongenomemedical informatics

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    Area of Science:

    • Bioinformatics
    • Translational Informatics
    • Genomic Medicine

    Background:

    • Current research in bioinformatics and translational informatics is crucial for health domain applications.
    • The IMIA Yearbook 2014 provides a valuable snapshot of the field's progress.

    Purpose of the Study:

    • To summarize excellent current research in Bioinformatics and Translational Informatics.
    • To provide an overview of current and future activities in the field.

    Main Methods:

    • A systematic review of articles selected for the IMIA Yearbook 2014.
    • MEDLINE searches using MeSH descriptors and relevant terms.
    • Independent evaluation by section editors, with 15 articles retained for peer-review.

    Main Results:

    • Three key articles were selected, focusing on data management and genome medicine.
    • Development of VEST (Variant Effect Scoring Tool) for prioritizing disease-causing variants.
    • Methods for inferring surnames from genomic data and a framework (iCluster+) for cancer subtype discovery were presented.

    Conclusions:

    • Bioinformatics and Medical Informatics are converging, with a focus on large-scale biological, genomic, and Electronic Health Records data.
    • There is a need for powerful, user-friendly tools for managing and interpreting complex health data.
    • Research efforts aim to clinically impact results and advance personalized medicine.