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Related Concept Videos

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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...
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
Human Genetics01:28

Human Genetics

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.
The complex relationship between genetics and psychology is observable through common biological components such...
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...
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...
The Central Dogma01:20

The Central Dogma

The central dogma explains the flow of genetic information from DNA nucleotides to the amino acid sequence of proteins.
RNA is the Missing Link Between DNA and Proteins
In the early 1900s, scientists discovered that DNA stores all the information needed for cellular functions and that proteins perform most of these functions. However, the mechanisms of converting genetic information into functional proteins remained unknown for many years. Initially, it was believed that a single gene is...

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In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

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Published on: August 24, 2013

Finding genes underlying human disease.

C M Stein1, R C Elston

  • 1Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, OH 44106, USA. cmstein@cwru.edu

Clinical Genetics
|September 12, 2008
PubMed
Summary
This summary is machine-generated.

Linkage studies are not obsolete despite the rise of genome-wide association studies (GWAS). Earlier gene mapping methods remain valuable, and new techniques are needed for human disease gene discovery.

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Area of Science:

  • Human genetics
  • Genetic epidemiology
  • Bioinformatics

Background:

  • Genome-wide association studies (GWAS) have become prominent in genetic research.
  • The utility of older genetic mapping techniques in the era of GWAS is frequently questioned.

Purpose of the Study:

  • To review historical and current approaches for mapping human disease genes.
  • To assess the continued relevance of linkage studies alongside GWAS.
  • To identify needs for future methodological development in gene mapping.

Main Methods:

  • Survey of genetic mapping strategies.
  • Review of analysis techniques preceding and informing GWAS.
  • Comparative analysis of different gene mapping methodologies.

Main Results:

  • Genome-wide association studies (GWAS) build upon foundational genetic mapping techniques.
  • Earlier approaches, including linkage analysis, retain utility in specific contexts.
  • There is a need for continued innovation in human disease gene mapping methodologies.

Conclusions:

  • Linkage studies are not superseded by GWAS and offer complementary information.
  • A comprehensive understanding of human disease genetics requires diverse mapping strategies.
  • Further development of genetic analysis tools is essential for advancing gene discovery.