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An R package to detect individuals with disease-causing variants by performing likelihood of Identity by descent between pairs of individuals from SNP genotyping array data

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bahlolab/FoundHaplo

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FoundHaplo

Tool to Identify individuals with inherited disease-causing variants using SNP chip data.

Please contact the author, Erandee Robertson [email protected], if you would like to report any issues, feedback or feature requests.

Citation

If you use FoundHaplo, please acknowledge by citing "Erandee Robertson, Mark F Bennett and Melanie Bahlo. FoundHaplo: Tool to Identify individuals with inherited disease-causing variants using SNP chip data DOI"

A guide to using FoundHaplo

Individuals who inherit the same genetic mutation from a common ancestor also share genomic regions on either side of the shared disease-causing variant. This suggests that the presence of a disease-causing genetic variant can be inferred by assessing identity by descent sharing of the variant-associated haplotype between an individual known to have the disease-causing mutation and a patient with unknown aetiology.

Using a Hidden Markov Model, FoundHaplo calculates the FH score, which is the likelihood of identity by descent between the samples of interest and a known disease-causing haplotype and evaluates the resulted scores against a control cohort to predict individuals that carry disease-causing haplotypes using SNP chip data.

see documentation about input file formats and guide to use parallel processing.

Install the R package using devtools packages

devtools::install_github("bahlolab/FoundHaplo")
library(FoundHaplo)

Clone the repository

git clone --depth=1 https://github.com/bahlolab/FoundHaplo.git

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An R package to detect individuals with disease-causing variants by performing likelihood of Identity by descent between pairs of individuals from SNP genotyping array data

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