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Related Concept Videos

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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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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Genetic Variation01:25

Genetic Variation

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Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
Genes exist in different versions called alleles,...
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Evolutionary Relationships through Genome Comparisons02:54

Evolutionary Relationships through Genome Comparisons

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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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Human Genetics01:28

Human Genetics

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Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
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Updated: Oct 4, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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A roadmap to increase diversity in genomic studies.

Segun Fatumo1,2, Tinashe Chikowore3,4, Ananyo Choudhury3

  • 1The African Computational Genomics (TACG) Research Group, MRC/UVRI and LSHTM, Entebbe, Uganda. segun.fatumo@lshtm.ac.uk.

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Summary

Genomic research benefits are limited due to underrepresentation of diverse populations. A roadmap for global genomic equity is proposed to ensure all benefit from genomic medicine advances.

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Area of Science:

  • Genomics
  • Genomic Medicine
  • Population Genetics

Background:

  • Human genome sequencing has advanced significantly over the past two decades.
  • Millions of human genomes have been sequenced, but studies are heavily biased towards European ancestry populations.
  • This lack of diversity limits the translation of genomic discoveries into benefits for underrepresented groups.

Purpose of the Study:

  • To identify factors contributing to the underrepresentation of diverse populations in genetic and genomic studies.
  • To propose a roadmap for enhancing inclusion in genomic research.
  • To ensure equitable access to the benefits of genomic medicine globally.

Main Methods:

  • Analysis of factors contributing to demographic imbalances in genomic datasets.
  • Leveraging experiences from establishing genomic studies in diverse global populations.
  • Developing a strategic roadmap for inclusive genomic research.

Main Results:

  • Identified key factors driving the underrepresentation in current genomic research.
  • Outlined a practical roadmap to foster greater diversity in genomic studies.
  • Emphasized the need for global collaboration to achieve genomic equity.

Conclusions:

  • Addressing the underrepresentation in genomic studies is crucial for realizing the full potential of genomic medicine.
  • A concerted global effort is required to ensure that the health benefits of genomics are accessible to all populations.
  • Promoting genomic equity is essential for advancing personalized and effective healthcare worldwide.