Mendelian Error Detection in Complex Pedigrees Using Weighted Constraint Satisfaction Techniques

@article{SnchezFibla2007MendelianED,
  title={Mendelian Error Detection in Complex Pedigrees Using Weighted Constraint Satisfaction Techniques},
  author={Mart{\'i} S{\'a}nchez-Fibla and Simon de Givry and Thomas Schiex},
  journal={Constraints},
  year={2007},
  volume={13},
  pages={130-154}
}
With the arrival of high throughput genotyping techniques, the detection of likely genotyping errors is becoming an increasingly important problem. In this paper we are interested in errors that violate Mendelian laws. The problem of deciding if a Mendelian error exists in a pedigree is NP-complete (Aceto et al., J Comp Sci Technol 19(1):42–59, 2004). Existing tools dedicated to this problem may offer different level of services: detect simple inconsistencies using local reasoning, prove… CONTINUE READING