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Related Concept Videos

Genomics02:02

Genomics

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...
Gene Evolution - Fast or Slow?02:05

Gene Evolution - Fast or Slow?

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...
Genome Size and the Evolution of New Genes03:21

Genome Size and the Evolution of New Genes

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.
Evolutionary Relationships through Genome Comparisons02:54

Evolutionary Relationships through Genome Comparisons

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...
Genetic Screens02:46

Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...
Genome Size and the Evolution of New Genes03:21

Genome Size and the Evolution of New Genes

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: Jul 18, 2026

Pattern-based Search of Epigenomic Data Using GeNemo
06:38

Pattern-based Search of Epigenomic Data Using GeNemo

Published on: October 8, 2017

Putting the search for genes in perspective.

N A Holtzman1

  • 1Genetics and Public Policy Studies, The Johns Hopkins Medical Institutions, 550 North Broadway, Suite 511, Baltimore, MD 21205, USA.

International Journal of Health Services : Planning, Administration, Evaluation
|June 16, 2001
PubMed
Summary

Human genome sequencing offers benefits for rare genetic diseases but faces challenges for common diseases due to complex gene interactions and environmental factors. Discovering genes and designing therapies for common diseases remains difficult.

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Last Updated: Jul 18, 2026

Pattern-based Search of Epigenomic Data Using GeNemo
06:38

Pattern-based Search of Epigenomic Data Using GeNemo

Published on: October 8, 2017

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

Area of Science:

  • Genomics
  • Disease Etiology
  • Personalized Medicine

Background:

  • Human genome sequencing was anticipated to revolutionize disease prediction and treatment.
  • Initial focus was on identifying individuals at risk for common diseases and tailoring drug therapies.
  • Rare diseases with single-gene mutations are more readily addressed by genetic sequencing.

Purpose of the Study:

  • To evaluate the impact of human genome sequencing on understanding and managing common diseases.
  • To assess the limitations of genetic approaches for complex, multifactorial diseases.
  • To highlight the importance of environmental and social factors in disease development.

Main Methods:

  • Review of current understanding of genetic contributions to common diseases.
  • Analysis of the challenges in identifying multiple genetic loci and their interactions.
  • Consideration of environmental and social determinants of health.

Main Results:

  • Genome sequencing is effective for rare, single-gene disorders.
  • Common diseases result from complex interactions of numerous genes and environmental exposures.
  • Identifying causative genes and developing targeted therapies for common diseases is highly challenging.
  • Common genotypes are weak predictors, and uncommon genotypes are difficult to find.
  • Environmental risk factors and their interactions with genes are crucial but complex to study.

Conclusions:

  • While beneficial for rare diseases, genome sequencing has limited immediate impact on common diseases.
  • Focusing on environmental risk factors may yield greater insights than solely genetic searches for common diseases.
  • The political and social context significantly influences disease occurrence and must be considered alongside biological factors.