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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.
GWAS does not require the identification of the target gene involved in...
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In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
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Striving Towards Equity in Cardiovascular Genomics Research.

Javier Jurado Vélez1, Nekayla Anderson2, Ivree Datcher2

  • 1Marnix E Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL, USA.

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Cardiovascular genomics research is advancing, with new genetic variants found in underrepresented populations. Including diverse groups is crucial for comprehensive understanding and equitable disease prevention strategies.

Keywords:
AncestryCardiovascular diseaseCardiovascular genomicsGenetic variabilityGeneticsHealth equity

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Area of Science:

  • Genomics
  • Cardiovascular Medicine
  • Population Health

Background:

  • Cardiovascular diseases remain a leading cause of mortality globally.
  • Genomic research has identified numerous genetic variants linked to cardiovascular diseases.
  • Existing genomic datasets often lack diversity, primarily representing European ancestries.

Purpose of the Study:

  • To review recent advancements in cardiovascular genomics.
  • To identify persisting gaps in the field, particularly concerning underrepresented populations.
  • To highlight the importance of diversity in genomic studies for equitable health outcomes.

Main Methods:

  • Literature review of recent studies in cardiovascular genomics.
  • Analysis of initiatives focused on increasing diversity in genomic research.
  • Examination of research exploring gene-environment interactions in cardiovascular health.

Main Results:

  • Emerging studies involving underrepresented populations have uncovered novel genetic variants associated with cardiovascular diseases.
  • Large-scale initiatives (e.g., H3Africa, Million Veterans Program, All of Us) are actively recruiting diverse participants.
  • Research is increasingly focusing on the interplay between genetic factors and socio-environmental determinants of health.

Conclusions:

  • Inclusion of underrepresented populations is essential for a comprehensive understanding of cardiovascular genetic variability.
  • Diverse genomic data will lead to more accurate and clinically meaningful strategies for cardiovascular disease prevention and treatment.
  • Equitable representation across all ancestral backgrounds is critical for advancing cardiovascular genomics.