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Related Concept Videos

Genomics02:02

Genomics

41.7K
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...
41.7K
Genetic Screens02:46

Genetic Screens

5.9K
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
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
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Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

77
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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Modern Molecular Taxonomy01:29

Modern Molecular Taxonomy

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Advancements in molecular biology have revolutionized the identification and characterization of bacteria, with multiple methods leveraging DNA sequencing for enhanced precision. As sequencing technologies improve and costs decline, these approaches are increasingly used in clinical, environmental, and evolutionary studies.Multilocus Sequence Typing (MLST) examines several housekeeping genes, essential chromosomal genes encoding cellular functions, to distinguish strains. Approximately...
835
Pharmacogenetics and Pharmacogenomics: Overview01:29

Pharmacogenetics and Pharmacogenomics: Overview

144
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...
144
Evolutionary Relationships through Genome Comparisons02:54

Evolutionary Relationships through Genome Comparisons

7.2K
Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...
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Updated: Mar 30, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

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[Genomic Tests: From Basic Research to Clinical Practice].

Kaname Nakatani, Ikuyo Mochiki

    Rinsho Byori. the Japanese Journal of Clinical Pathology
    |November 4, 2015
    PubMed
    Summary

    Advanced genomic tests require robust quality assurance and ethical considerations for clinical integration. Addressing analytical validity and data interpretation challenges is crucial for safe and effective use in healthcare.

    Area of Science:

    • Genomic medicine
    • Clinical laboratory science
    • Bioinformatics

    Context:

    • Rapid advancements in genomic analytical technologies are transforming clinical laboratory testing.
    • Many genomic tests are developed as laboratory-developed tests (LDTs) lacking sufficient analytical validation.
    • Current genomic testing frameworks face challenges from new high-throughput technologies like next-generation sequencing and microarrays.

    Purpose:

    • To highlight the necessity of quality assurance (QA) and analytical validity for genomic tests in clinical practice.
    • To address the challenges in data analysis, interpretation, and informatics required for large genomic datasets.
    • To discuss the ethical, legal, and social implications (ELSI) of genomic information and the regulation of direct-to-consumer (DTC) genetic tests.

    Summary:

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    • Ensuring the analytical validity and quality assurance of genomic tests is paramount for their reliable use in clinical settings.
    • Novel analytical processes, including data quality assessment and interpretation, are essential for handling large genomic datasets.
    • Addressing ELSI and regulating DTC genetic tests are critical for responsible implementation of genomic technologies.

    Impact:

    • Clinicians and policymakers must evaluate the accuracy, risks, and benefits of genomic tests for patient care.
    • Standardized QA and best practices are needed to ensure the reliability of genomic test results.
    • Genomic technologies, despite current challenges, offer powerful tools for clinical practice and will be gradually integrated into healthcare systems.