@article {Hendrickson346, author = {B C Hendrickson and D Pruss and E Lyon and T Scholl}, title = {Application of haplotype pair analysis for the identification of hemizygous loci}, volume = {40}, number = {5}, pages = {346--347}, year = {2003}, doi = {10.1136/jmg.40.5.346}, publisher = {BMJ Publishing Group Ltd}, 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.}, issn = {0022-2593}, URL = {https://jmg.bmj.com/content/40/5/346}, eprint = {https://jmg.bmj.com/content/40/5/346.full.pdf}, journal = {Journal of Medical Genetics} }