In this work, we propose the MIN-RECOMBINANT HAPLOTYPE CONFIGURATION WITH BOUNDED ERRORS problem (MRHCE), which extends the original MIN-RECOMBINANT HAPLOTYPE CONFIGURATION formulation by incorporating two common characteristics of real data: errors and missing genotypes (including untyped individuals). We describe a practical algorithm for MRHCE that is based on a reduction to the Satisfiability problem (SAT) and exploits recent advances in the constraint programming literature. An experimental analysis demonstrates the soundness of our model and the effectiveness of the algorithm under several scenarios. The analysis on real data and the comparison with state-of-the-art programs reveals that our approach couples better scalability to large and complex pedigrees with the explicit inclusion of genotyping errors into the model

Pirola, Y., DELLA VEDOVA, G., Biffani, S., Stella, A., Bonizzoni, P. (2012). A fast and practical approach to genotype phasing and imputation on a pedigree with erroneous and incomplete information. In 2012 IEEE 2nd International Conference on Computational Advances in Bio and Medical Sciences, ICCABS 2012. IEEE [10.1109/ICCABS.2012.6182643].

A fast and practical approach to genotype phasing and imputation on a pedigree with erroneous and incomplete information

PIROLA, YURI;DELLA VEDOVA, GIANLUCA;BONIZZONI, PAOLA
2012

Abstract

In this work, we propose the MIN-RECOMBINANT HAPLOTYPE CONFIGURATION WITH BOUNDED ERRORS problem (MRHCE), which extends the original MIN-RECOMBINANT HAPLOTYPE CONFIGURATION formulation by incorporating two common characteristics of real data: errors and missing genotypes (including untyped individuals). We describe a practical algorithm for MRHCE that is based on a reduction to the Satisfiability problem (SAT) and exploits recent advances in the constraint programming literature. An experimental analysis demonstrates the soundness of our model and the effectiveness of the algorithm under several scenarios. The analysis on real data and the comparison with state-of-the-art programs reveals that our approach couples better scalability to large and complex pedigrees with the explicit inclusion of genotyping errors into the model
No
slide + paper
algorithms, haplotype inference, pedigrees, genotyping errors, missing data, recombinations
English
IEEE International Conference on Computational Advances in Bio and Medical Sciences, ICCABS
978-146731321-6
https://ieeexplore.ieee.org/document/6182643
Pirola, Y., DELLA VEDOVA, G., Biffani, S., Stella, A., Bonizzoni, P. (2012). A fast and practical approach to genotype phasing and imputation on a pedigree with erroneous and incomplete information. In 2012 IEEE 2nd International Conference on Computational Advances in Bio and Medical Sciences, ICCABS 2012. IEEE [10.1109/ICCABS.2012.6182643].
Pirola, Y; DELLA VEDOVA, G; Biffani, S; Stella, A; Bonizzoni, P
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10281/30740
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