Recombination mapping using Boolean logic and high-density SNP genotyping for exome sequence filtering.

@article{Markello2012RecombinationMU,
  title={Recombination mapping using Boolean logic and high-density SNP genotyping for exome sequence filtering.},
  author={Thomas C Markello and Ted Han and Hannah Carlson-Donohoe and Chidi Ahaghotu and Ursula Harper and MaryPat Jones and Settara C Chandrasekharappa and Yair Anikster and David R Adams and William A Gahl and Cornelius F. Boerkoel},
  journal={Molecular genetics and metabolism},
  year={2012},
  volume={105 3},
  pages={
          382-9
        }
}
Whole genome sequence data for small pedigrees has been shown to provide sufficient information to resolve detailed haplotypes in small pedigrees. Using such information, recombinations can be mapped onto chromosomes, compared with the segregation of a disease of interest and used to filter genome sequence variants. We now show that relatively inexpensive SNP array data from small pedigrees can be used in a similar manner to provide a means of identifying regions of interest in exome sequencing… CONTINUE READING
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