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Characterizing Mutational Load and Clonal Composition of Human Blood
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Published on: July 11, 2019

Quantifying harmful mutations in human populations.

Sankar Subramanian1

  • 1Environmental Futures Centre and Australian Rivers Institute, School of Environment, Griffith University, Nathan, Qld, Australia. s.subramanian@griffith.edu.au

European Journal of Human Genetics : EJHG
|April 19, 2012
PubMed
Summary
This summary is machine-generated.

Up to 53% of rare nonsynonymous single-nucleotide polymorphisms (nSNPs) may be deleterious. The proportion of harmful nSNPs decreases with allele frequency, with only 12% of common nSNPs being harmful.

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Area of Science:

  • Human Genetics
  • Population Genetics
  • Molecular Biology

Background:

  • Previous research indicated deleterious nonsynonymous single-nucleotide polymorphisms (nSNPs) in human populations.
  • The proportion of deleterious nSNPs among rare versus common variants remained unknown.

Purpose of the Study:

  • To estimate the proportion of deleterious nSNPs within rare and common human genetic variants.
  • To understand the distribution of harmful genetic variations across different allele frequencies.

Main Methods:

  • Analysis of over 77,000 single-nucleotide polymorphisms (SNPs) from human protein-coding genes.
  • Utilized two independent computational methods to assess SNP deleteriousness.
  • Categorized SNPs based on minor allele frequency (MAF), distinguishing rare (MAF<0.002) from common (MAF>0.4) variants.

Main Results:

  • Approximately 53% of rare nSNPs were predicted to be deleterious.
  • The proportion of deleterious nSNPs decreased significantly as allele frequency increased.
  • Only 12% of common nSNPs were identified as harmful.

Conclusions:

  • Deleterious genetic variations are present in human populations even at high allele frequencies.
  • Understanding the contribution of both rare and common variants is crucial for genetic disease research.
  • Findings can inform genome-wide association studies (GWAS) by highlighting the impact of different variant frequencies.