Application of haplotype pair analysis for the identification of hemizygous loci.
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ABSTRACT:
SUBMITTER: Hendrickson BC
PROVIDER: S-EPMC1735469 | biostudies-other | 2003 May
REPOSITORIES: biostudies-other
Publications
Application of haplotype pair analysis for the identification of hemizygous loci.
Hendrickson B C BC Pruss D D Lyon E E Scholl T T
Journal of medical genetics 20030501 5
An expectation maximisation based prediction algorithm was created to identify unusual haplotypes in patient samples that may be caused by small intragenic deletions. In this approach, unphased SNP genotypes are compared to pairs of canonical haplotypes to identify potentially hemizygous regions. This method was successfully applied to identify five deletions in the 3' region of BRCA1. ...[more]
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