Recombination mapping using Boolean logic and high-density SNP genotyping for exome sequence filtering.
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ABSTRACT:
SUBMITTER: Markello TC
PROVIDER: S-EPMC3515651 | biostudies-literature | 2012 Mar
REPOSITORIES: biostudies-literature
Publications
Recombination mapping using Boolean logic and high-density SNP genotyping for exome sequence filtering.
Markello Thomas C TC Han Ted T Carlson-Donohoe Hannah H Ahaghotu Chidi C Harper Ursula U Jones MaryPat M Chandrasekharappa Settara S Anikster Yair Y Adams David R DR Gahl William A WA Boerkoel Cornelius F CF
Molecular genetics and metabolism 20111223 3
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 ...[more]
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