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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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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.
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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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An Integrated Systems Genetics and Omics Toolkit to Probe Gene Function.

Hao Li1, Xu Wang1, Daria Rukina2

  • 1Laboratory for Integrative and Systems Physiology, Institute of Bioengineering, École Polytechnique Fédérale de Lausanne, Lausanne 1015, Switzerland.

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Summary
This summary is machine-generated.

This study introduces a web server for systems genetics analysis to understand gene function. It identifies new gene-phenotype links, aiding complex trait and disease research.

Keywords:
BXDPheWASQTLTWASePheWASgenetic reference populationmediation analysissystems genetics

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Area of Science:

  • Genetics
  • Systems Biology
  • Bioinformatics

Background:

  • Understanding genetic and environmental influences on complex traits and diseases is crucial.
  • Systems genetics approaches are needed to dissect gene function comprehensively.

Purpose of the Study:

  • To develop and validate a multi-layered systems genetics toolkit.
  • To create an open-access web server (systems-genetics.org) for gene function analysis.
  • To expedite the dissection of gene function using multi-omics data.

Main Methods:

  • Phenome-wide, transcriptome-wide, and proteome-wide association studies.
  • Mediation and reverse-mediation analyses.
  • Application to multi-omics datasets from the BXD mouse genetic reference population.

Main Results:

  • Identified and validated gene-phenotype associations, including novel links between Rpl26 and body weight, and Cpt1a and lipid metabolism.
  • Established gene regulatory relationships, such as co-regulation of BCKDHA and BCKDHB protein levels.
  • Identified targets for transcription factors E2F6, ZFP277, and ZKSCAN1.

Conclusions:

  • The developed toolkit enables robust identification of gene-gene and gene-phenotype links.
  • Findings are translatable across populations and species.
  • The approach is universally applicable to any population with multi-omics datasets.