Joint genotype calling with array and sequence data.

@article{OConnell2012JointGC,
  title={Joint genotype calling with array and sequence data.},
  author={Jared O'Connell and Jonathan Marchini},
  journal={Genetic epidemiology},
  year={2012},
  volume={36 6},
  pages={
          527-37
        }
}
Analysis of rare variants is currently a major focus of genetic studies of human disease. Single-nucleotide polymorphism (SNP) genotypes can be assayed using microarray genotyping or by sequencing, but neither technology produces perfect genotype calls, especially at rare SNPs. Studies that collect both types of data are becoming increasingly common, so it may be possible to combine data types to increase accuracy. We present a method, called Chiamante, which calls genotypes on individuals with… CONTINUE READING

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