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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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Gene Duplication and Divergence02:37

Gene Duplication and Divergence

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The seminal work of Ohno in 1970 popularized the idea of gene duplication and divergence. DNA sequence comparison studies reveal that a large portion of the genes in bacteria, archaebacteria, and eukaryotes was  generated by gene duplication and divergence, indicating its critical role in evolution.
The duplicated copies of the gene are called Paralogs. Paralogs with similar sequences and functions form a gene family. Across several species, a large number of gene families are...
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Next-generation Sequencing03:00

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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
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Genome Size and the Evolution of New Genes03:21

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While every living organism has a genome of some kind (be it RNA, or DNA), there is considerable variation in the sizes of these blueprints. One major factor that impacts genome size is whether the organism is prokaryotic or eukaryotic. In prokaryotes, the genome contains little to no non-coding sequence, such that genes are tightly clustered in groups or operons sequentially along the chromosome. Conversely, the genes in eukaryotes are punctuated by long stretches of non-coding sequence.
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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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Genomic DNA in Eukaryotes00:58

Genomic DNA in Eukaryotes

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Eukaryotes have large genomes compared to prokaryotes. To fit their genomes into a cell, eukaryotic DNA is packaged extraordinarily tightly inside the nucleus. To achieve this, DNA is tightly wound around proteins called histones, which are packaged into nucleosomes that are joined by linker DNA and coil into chromatin fibers. Additional fibrous proteins further compact the chromatin, which is recognizable as chromosomes during certain phases of cell division.
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Updated: Jun 4, 2025

Leveraging CyVerse Resources for De Novo Comparative Transcriptomics of Underserved Non-model Organisms
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Bridging genomics' greatest challenge: The diversity gap.

Manuel Corpas1, Mkpouto Pius2, Marie Poburennaya3

  • 1Life Sciences, University of Westminster, 115 New Cavendish Street, W1W 6UW London, UK; The Alan Turing Institute, London, UK; Cambridge Precision Medicine Ltd., ideaSpace, University of Cambridge Biomedical Innovation Hub, Cambridge, UK.

Cell Genomics
|December 18, 2024
PubMed
Summary

Diverse representation in biomedical data is crucial for health equity. Current genomic datasets, including GWASs and DTC testing, inadequately represent global ancestral diversity, risking health disparities.

Keywords:
GWASancestrybiasdirect-to-consumerdiversityequitygenomicsglobal datasetshealthcareinclusionpharmacogeneticsrepresentation

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Area of Science:

  • Biomedical Data Science
  • Genomics
  • Health Equity

Background:

  • Diverse representation in biomedical data is essential for equitable healthcare.
  • Lack of representation perpetuates health disparities and introduces biases against underrepresented ancestral groups.
  • Genomic insights are increasingly vital for evidence-based medicine.

Purpose of the Study:

  • To quantitatively assess the representation of ancestries in key human genomics datasets.
  • To compare the proportional representation in datasets against global census data and genetic diversity.
  • To highlight the imperative for strategic inclusion of global genomic diversity in research.

Main Methods:

  • Quantitative assessment of ancestry representation across human genomics datasets.
  • Analysis included genome-wide association studies (GWASs), pharmacogenomics, clinical trials, and direct-to-consumer (DTC) genetic testing.
  • Comparison of dataset ancestry proportions with global population census data.

Main Results:

  • Existing genomic datasets show insufficient representation of global ancestral genetic diversity.
  • Certain populations are overrepresented relative to their global population size and genomic diversity.
  • This imbalance risks exacerbating health disparities for underrepresented groups.

Conclusions:

  • Current genomic datasets do not adequately reflect global ancestral diversity.
  • Overrepresentation of some groups and underrepresentation of others in genomic data can worsen health inequities.
  • Strategic efforts are imperative to ensure comprehensive global genomic diversity in datasets for equitable healthcare advancements.