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IBDelphi

About this program

The IBDelphi algorithm is a method for identifying segments of IBD between two individuals. Using this knowledge it is possible to calculate the coefficients of inbreeding and relationships, as well as the probability of one of their children suffering from an autosomal recessive disease, assuming their common ancestor is heterozygous for a deleterious mutation.

The IBDelphi algorithm has been implemented in two software packages IBDelphi and IBDpopluations:

IBDelphi allows the analysis of Affymetrix high density SNP data from a consanguineous couple, or a consanguineous couple plus a relative affected by a possibly autosomal recessive disease, or a consanguineous couple plus a relative couple who had a child affected by a possibly autosomal recessive disease. When analysing data from a couple and an affected relative with a unknown mutation it is possible to compare the haplotype of the IBD regions in the couple to the haplotype of the autozygous regions in the affected relative. Using this knowledge it is possible to calculate the probability of one of their children suffering from the same autosomal recessive disease.

insilicase icon This program and its instruction file is currently hosted on my department web site and can obtained from here

IBDpopulations analyses multiple Affymetrix high density SNP data file from one or two distinct population groups, estimating the degree of IDB between pairs of individuals, allowing the level intra population or inter-population relatedness to be calculated.

insilicase icon This program and its instruction file is currently hosted on my department web site and can obtained from here

Citation

Carr IM, Markham AF, Pena SDJ (2011). Estimating the degree of identity by descent in consanguineous couples.
Hum Mutat. Accepted 2011 Jul 28.

Computer requirements

This program runs on Microsoft Windows, using the .NET 2.0 environment which can be obtained from here.



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