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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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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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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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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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Gene Evolution - Fast or Slow?02:05

Gene Evolution - Fast or Slow?

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The genomes of eukaryotes are punctuated by long stretches of sequence which do not code for proteins or RNAs. Although some of these regions do contain crucial regulatory sequences, the vast majority of this DNA serves no known function. Typically, these regions of the genome are the ones in which the fastest change, in evolutionary terms, is observed, because there is typically little to no selection pressure acting on these regions to preserve their sequences.
In contrast, regions which code...
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Multi-species Conserved Sequences02:51

Multi-species Conserved Sequences

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Next-generation sequencing technologies have created large genomic databases of a variety of animals and plants. Ever since the human genome project was completed, scientists studied the genome of primates, mammals, and other phylogenetically distant living beings. Such large-scale  studies have provided new insights into the evolutionary relationship between organisms.
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Related Experiment Video

Updated: Jul 5, 2025

Multiplexed Analysis of Retinal Gene Expression and Chromatin Accessibility Using scRNA-Seq and scATAC-Seq
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Advancing equity in human genomics through tissue-specific multi-ancestry molecular data.

Ana Luiza Arruda1, Andrew P Morris2, Eleftheria Zeggini3

  • 1Institute of Translational Genomics, Helmholtz Munich, 85764 Neuherberg, Germany; Munich School for Data Science, Helmholtz Munich, 85764 Neuherberg, Germany; Technical University of Munich, School of Medicine, Graduate School of Experimental Medicine, 81675 Munich, Germany.

Cell Genomics
|January 25, 2024
PubMed
Summary

Generating molecular data from diverse global populations and tissues is crucial. This data will help resolve genetic associations, identify key genes, and expand translational genomics beyond European ancestries and blood-based studies.

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Area of Science:

  • Genomics
  • Molecular Biology
  • Population Genetics

Background:

  • Current molecular datasets lack diversity in tissue types and global population representation.
  • This limits the resolution of genome-wide association studies (GWAS) and the identification of disease-associated genes.
  • Translational genomics is predominantly focused on European-ancestry individuals and diseases where blood is the primary tissue.

Purpose of the Study:

  • To highlight the urgent need for generating comprehensive molecular data from diverse tissues and global populations.
  • To emphasize the importance of this data for advancing genetic research and understanding disease.
  • To advocate for broadening the scope of translational genomics.

Main Methods:

  • This study is a perspective/review, outlining the necessity for data generation.
  • It emphasizes the critical need for multi-tissue and multi-ancestry molecular data.
  • Focuses on the application of this data in resolving GWAS loci and identifying effector genes.

Main Results:

  • Molecular data from diverse tissues and global populations is currently insufficient.
  • Existing data primarily represents European-ancestry individuals and blood tissues.
  • There is a significant gap in data needed for comprehensive genetic and translational research.

Conclusions:

  • Generating diverse molecular data is essential for accurate genetic discoveries.
  • Expanding data beyond European ancestries and blood tissues is critical for equitable genomic medicine.
  • Addressing these data gaps will accelerate the identification of disease mechanisms and therapeutic targets.