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Related Experiment Videos

Informativity assessment for biallelic single nucleotide polymorphisms.

M Krawczak1

  • 1Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK. krawczak@cardiff.ac.uk

Electrophoresis
|August 6, 1999
PubMed
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Single nucleotide polymorphisms (SNPs) offer robust kinship testing. A new measure, N, quantifies SNP informativity for paternity testing by relating to exclusion power (Z).

Area of Science:

  • Genetics
  • Forensic Science

Background:

  • Single nucleotide polymorphisms (SNPs) are valuable for kinship and paternity testing.
  • Effective use of SNPs requires measures of their informativity.

Purpose of the Study:

  • To define and validate a measure of SNP informativity relevant to kinship testing.
  • To relate SNP informativity to the power of excluding false paternity (Z).

Main Methods:

  • Developed a Z-related measure of informativity for biallelic SNPs.
  • Utilized allele frequency vectors and geometric approximations.
  • Employed linear regression analysis on simulated SNP sets.

Main Results:

  • Introduced 'N', the equivalent number of maximally informative SNPs, as a measure of informativity.

Related Experiment Videos

  • Demonstrated that N approximates 2n times the average gene diversity for n SNPs.
  • Showed N can be calculated for multiallelic markers using known Z values.

    • Conclusions:

    • The 'equivalent number of maximally informative SNPs' (N) is a suitable measure for marker informativity in kinship testing.
    • This measure simplifies the selection of efficient SNP combinations for genetic testing.