A sequential Monte Carlo framework for haplotype inference in CNV/SNP genotype data

@inproceedings{Iliadis2014ASM,
  title={A sequential Monte Carlo framework for haplotype inference in CNV/SNP genotype data},
  author={Alexandros Iliadis and Dimitris Anastassiou and Xiaodong Wang},
  booktitle={EURASIP J. Bioinformatics and Systems Biology},
  year={2014}
}
Copy number variations (CNVs) are abundant in the human genome. They have been associated with complex traits in genome-wide association studies (GWAS) and expected to continue playing an important role in identifying the etiology of disease phenotypes. As a result of current high throughput whole-genome single-nucleotide polymorphism (SNP) arrays, we currently have datasets that simultaneously have integer copy numbers in CNV regions as well as SNP genotypes. At the same time, haplotypes that… CONTINUE READING