RT Journal Article
SR Electronic
T1 Application of haplotype pair analysis for the identification of hemizygous loci
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 346
OP 347
DO 10.1136/jmg.40.5.346
VO 40
IS 5
A1 B C Hendrickson
A1 D Pruss
A1 E Lyon
A1 T Scholl
YR 2003
UL http://jmg.bmj.com/content/40/5/346.abstract
AB 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.