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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

Genome-wide Association Studies-GWAS

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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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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.
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Next-generation Sequencing03:00

Next-generation Sequencing

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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

Genome Size and the Evolution of New Genes

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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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Related Experiment Video

Updated: Oct 14, 2025

Amplification, Next-generation Sequencing, and Genomic DNA Mapping of Retroviral Integration Sites
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Advances in integrative African genomics.

Chao Zhang1, Matthew E B Hansen1, Sarah A Tishkoff2

  • 1Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.

Trends in Genetics : TIG
|November 6, 2021
PubMed
Summary

African populations are under-represented in human genome sequencing. More diverse African genomic data and functional studies are crucial for understanding human variation and advancing precision medicine.

Keywords:
Africansgenomic diversityintegrative genomicsintermediate phenotypeomicspopulation-specific reference genome

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Area of Science:

  • Genomics
  • Population Genetics
  • Bioinformatics

Background:

  • Human genome sequencing has surged, identifying millions of genetic variants.
  • African populations remain significantly under-represented in global sequencing initiatives.
  • Understanding genetic diversity is key to addressing health disparities.

Purpose of the Study:

  • To highlight the need for increased sequencing in diverse African populations.
  • To emphasize the importance of functional genomics in interpreting genetic variation.
  • To review advances in African integrative genomics for precision medicine.

Main Methods:

  • Review of current literature on human genome sequencing and population genetics.
  • Discussion of multi-omics approaches for functional variant interpretation.
  • Analysis of integrative genomic studies in African populations.

Main Results:

  • Millions of genetic variants identified, but African diversity is poorly characterized.
  • Sequencing alone is insufficient; functional consequence determination is critical.
  • Integrative genomic studies are advancing precision medicine applications in Africa.

Conclusions:

  • Closing knowledge gaps in African genomic diversity requires dedicated efforts.
  • African-specific reference genomes and functional studies are essential.
  • Genomic insights from Africa will improve global health and precision medicine.