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Related Concept Videos

Genomics02:02

Genomics

36.3K
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...
36.3K
Evolutionary Relationships through Genome Comparisons02:54

Evolutionary Relationships through Genome Comparisons

5.7K
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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Next-generation Sequencing03:00

Next-generation Sequencing

88.8K
The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
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Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

13.4K
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.
GWAS does not require the identification of the target gene involved in...
13.4K

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Related Experiment Video

Updated: Jul 2, 2025

Infinium Assay for Large-scale SNP Genotyping Applications
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Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

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NIH megastudy analyzes first 250,000 genomes.

Jocelyn Kaiser

    Science (New York, N.Y.)
    |February 22, 2024
    PubMed
    Summary

    The All of Us Research Program identified novel DNA variations and improved genetic risk predictions across diverse populations. These advancements enhance our understanding of genetic contributions to health in various groups.

    Area of Science:

    • Genomics
    • Population Genetics
    • Bioinformatics

    Background:

    • The All of Us Research Program aims to gather comprehensive health data from diverse U.S. populations.
    • Understanding genetic variations is crucial for personalized medicine and disease risk assessment.

    Discussion:

    • Analysis of the All of Us dataset revealed previously unidentified DNA variants.
    • These findings contribute to a more nuanced understanding of genetic architecture across different ancestral groups.
    • Refined genetic risk scores show improved predictive power in diverse cohorts.

    Key Insights:

    • Discovery of novel genetic variants impacting health.
    • Enhanced accuracy of polygenic risk scores (PRS) for broader populations.
    • Highlighting the importance of diversity in genomic research.

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    Outlook:

    • Future research can leverage these discoveries for targeted health interventions.
    • Continued expansion of the All of Us dataset will further refine genomic insights.
    • Potential for improved diagnostic tools and preventative strategies based on diverse genetic data.