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The human body harbors a vast and diverse viral community known as the human virome. The virome includes bacteriophages that infect bacteria, and eukaryotic viruses that infect human cells. Transient dietary and environmental viruses also contribute to this dynamic ecosystem. Estimates suggest the human body may contain on the order of 10¹³ viral particles, though abundance varies widely by body site and detection method.Comprehensive characterization of the virome has become possible only with...
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Resolving the variable genome and epigenome in human disease.

J C Knight1

  • 1Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, UK. julian@well.ox.ac.uk

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|March 27, 2012
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Summary

Advances in sequencing define the human genome and epigenome, revealing functional consequences of genetic and epigenetic variations for disease. This review highlights insights from association studies and functional genomics for clinical practice.

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Area of Science:

  • Genomics
  • Epigenetics
  • Human Disease

Background:

  • Current sequencing technologies offer unprecedented resolution of the human genome and epigenome.
  • Genetic and epigenetic variations have significant implications for understanding human disease.
  • Clinical practice can benefit from insights into functional consequences of genomic variations.

Purpose of the Study:

  • To review functional consequences of genetic and epigenetic variation using clinical examples.
  • To describe insights from genome-wide association studies (GWAS) and rare variant analysis in common diseases.
  • To discuss the application of functional genomics and expression analysis in disease association studies.

Main Methods:

  • Review of current literature on genetic and epigenetic variation.
  • Examples from clinical practice illustrating functional consequences.
  • Discussion of genome-wide association studies (GWAS).
  • Analysis of rare variants in common diseases.
  • Application of whole exome sequencing for Mendelian traits.
  • Functional genomics to interrogate the genome and epigenome.
  • Expression quantitative trait mapping (eQTM) and allele-specific gene expression (ASE) analysis.

Main Results:

  • Genome-wide association studies provide insights into common diseases.
  • Whole exome sequencing has shown success in identifying causes of Mendelian traits.
  • Functional genomics and expression analyses help build an integrated view of the regulatory genomic landscape.
  • Understanding rare variants is crucial for common diseases.

Conclusions:

  • Advances in sequencing and functional genomics are crucial for understanding human disease.
  • Integrating genomic and epigenomic data provides a comprehensive view of disease mechanisms.
  • These insights have direct implications for clinical practice and disease management.