Genome scanning for segments shared identical by descent among distant relatives in isolated populations

Am J Hum Genet. 1997 Oct;61(4):830-42. doi: 10.1086/514891.

Abstract

In this paper, we address some of the statistical issues concerning false-positive rates that arise when the whole genome, or a portion thereof, is scanned in distantly related individuals, to search for a disease locus. We derive a method for correcting false-positive probabilities for the large number of comparisons that are performed when scanning a large portion of the genome. We consider both the idealized situation of a dense set of fully informative markers and the more realistic data-collection strategy of an initial scan at low resolution to identify promising areas, which then are typed with markers at high resolution. We also examine the accuracy of false-positive rates approximated using a conservative estimate of the separation distance between affected individuals in the current generation and the common ancestral couple. Calculation of false-positive rates when inbreeding is present in the pedigree also is considered.

Publication types

  • Comparative Study
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alleles
  • Chromosomes, Human
  • Consanguinity
  • False Positive Reactions
  • Family
  • Female
  • Genetic Diseases, Inborn / genetics*
  • Genetic Linkage*
  • Genetic Techniques
  • Genome, Human*
  • Humans
  • Male
  • Models, Genetic*
  • Pedigree*
  • Probability