PMC:4564992 / 33008-34221 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/4564992","sourcedb":"PMC","sourceid":"4564992","source_url":"https://www.ncbi.nlm.nih.gov/pmc/4564992","text":"The middle lines of both plots in Figure 3 show the power of EMIM when incorporating haplotype estimation, with the cell counts either unadjusted or adjusted by PREMIM (see Material and Methods for description of adjustment procedure). It can be seen that the use of estimated parent of origin through haplotype estimation provides a substantial increase in power in comparison to that of the previous version of EMIM (the bottom line of both plots), which effectively “averages” over parent of origin. The greater improvement in power from haplotype estimation seen for case-mother duos in comparison to that for case-parent trios is due to the larger proportion of families in which the parent of origin of alleles is ambiguous (for case-mother duos, only the mother and child must be heterozygous for parent of origin to be unobserved, whereas for case-parent trios, all three individuals must be heterozygous). The power when using adjusted estimates (see Material and Methods) shows a slight improvement over the power when using unadjusted estimates, owing to the fact that the estimation of counts of duos falling into the different parent-of-origin categories is improved through the adjustment procedure.","tracks":[]}