[28]) differ from the rCRS Any haplotypes with point heteroplasm

[28]) differ from the rCRS. Any haplotypes with point heteroplasmies that occurred at one of these positions were re-reviewed by careful examination of the raw data to ensure that the point heteroplasmy was not due to co-detection of a NUMT (which would be expected to present as multiple mixed positions within the amplicon in question [28]). All data transfer steps into internal databases and between laboratories were performed electronically. When changes were made to haplotypes at AFDIL after the initial transfer

of sample files to EMPOP, all relevant sample files were re-sent to EMPOP for complete replacement (i.e., no manual changes were made to haplotypes at EMPOP). Summary buy C59 statistics (number of haplotypes, number of unique haplotypes, random match probability, haplotype diversity and power of discrimination) for multiple regions of the mtGenome (hypervariable region 1 (HV1) only; HV1 and hypervariable region 2 (HV2) in combination; the complete CR; and

the full mtGenome) were based on pairwise comparisons of each of the three populations in the LISA custom software. Cytosine insertions at nucleotide positions 309, 573 and 16193 were ignored for the analyses, and point heteroplasmies were treated as differences. Estimations of broad scale maternal biogeographic ancestry (African, East Asian, West Eurasian isothipendyl or Native American) were based on the haplogroups assigned to each haplotype. For the few haplogroup M, N and U lineages which have overlapping

present day distributions in certain Pictilisib cell line geographic regions (North Africa, southern Europe and the Near East), assignment to one of the ancestry categories was made on the basis of the geographic distribution of the same or closely related lineages in global populations represented in a beta version of the EMPOP3 database [36]. Pairwise comparisons of the haplotypes representing each population and biogeographic ancestry group were performed for (a) the full mtGenome, and (b) with comparisons restricted to the CR, in the LISA custom software. Cytosine insertions at nucleotide positions 309, 573 and 16193 were ignored for the analyses. Statistical calculations to assess significance were performed either in Microsoft Office Excel 2010, or, for Chi-Square tests of independence (for comparisons of differing proportions), using the calculator spreadsheet available for download from http://udel.edu/∼mcdonald/statchiind.html[37]. Likelihood ratios (LRs) were developed using two methods: the “exact” method for confidence intervals (Clopper–Pearson) [38] and the “kappa method” [39]. Clopper–Pearson 95% confidence intervals were calculated using HaploCALc Version 1.8 by Steven Myers ([email protected]).

Comments are closed.