Application of haplotype pair analysis for the identification of hemizygous loci
Open Access
- 1 May 2003
- journal article
- Published by BMJ in Journal of Medical Genetics
- Vol. 40 (5) , 346-347
- https://doi.org/10.1136/jmg.40.5.346
Abstract
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.Keywords
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