| Rapid Multipoint Linkage Analysis of Recessive Traits in Nuclear Families, including Homozygosity Mapping (2007) | |||||||||||||||||
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| this paper allows very rapid multipoint likelihood calculation in nuclear families (with or without parental consanguinity), and the accompanying software package makes multipoint mapping feasible in many experimental contexts. 18 18 Acknowledgments We thank David Botstein and Michele Gschwend for many discussions concerning homozygosity mapping and for sharing unpublished data. We thank Daniel Kastner and his colleagues for sharing the pedigree and genotype data from their FMF studies. We thank Robert Elston, Michael Boehnke, Augustine Kong, and an anonymous referee for comments on the manuscript. This work was supported in part by a grant from the National Institutes of Health (HG00098) to E.S.L. 19 19 Appendix: Description of algorithm Consider a fixed map of M ordered marker loci with known recombination fractions q i between loci i and i+1. We wish to compute the likelihood for a given pedigree. Following Lander and Green (1987), the inheritance pattern at each locus i (i=1, 2, ..., M) can be described by an n-bit vector v i . Each bit describes the outcome of one of the n meioses in the pedigree: the bit is 0 if the paternally derived allele is transmitted and 1 if the maternally derived allele is transmitted. The set of all possible n-bit vectors will be identified with Z 2 ( ) | |||||||||||||||||
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