0 (five instances) to 0.76 with the mode in the 0.6–0.65 interval (Supplemental Fig. S1). Figure options Download full-size image Download high-quality image (354 K) Download as PowerPoint slide We selected loci that have multiple alleles in most to all of the 54 populations and are independent at the population level, i.e., that are on separate chromosomes or sufficiently far apart on the same chromosome to show minimal linkage disequilibrium. When two syntenic candidate microhaps were sufficiently close to show significant LD in several populations, we selected the locus with higher average heterozygosity in more or all of the eight major geographical regions into
which the populations cluster (see Table S1). Our development of this panel has been undertaken to demonstrate E7080 price that such a SNP-based resource can be developed and be of value in lineage/familial identification. By the very nature of these 31 multiallelic Metformin research buy loci that we have documented, proof of principle now exists. We also find the microhap loci have value for ancestry inference and individual identification. The SNP and haplotype
frequencies for the microhaps in this study are available from the authors. They are also available in the web-accessible ALFRED database (http://alfred.med.yale.edu) where they can be retrieved in a search by using the key word “microhap”. The size (molecular extent) range of the 31 microhaps is 18 bp to 201 bp with an average of 107.5 bp and a median value of 97 bp. The overall levels of heterozygosity and genotype resolvability are very good. A locus with only two alleles (e.g., a single SNP) can have heterozygosity no greater than 0.5, while a locus with three alleles can have heterozygosity of 0.667.
In general, the maximum heterozygosity occurs when all alleles have the same frequency. The median heterozygosity for these 31 loci is 0.55 for the 54 populations studied and ranges from 0.40 to 0.63. Edoxaban 26 of the 31 microhaps have heterozygosity greater than 0.5. Heterozygosity levels and genotype resolvability are also very good when examined for each of the eight major geographical regions into which the populations are grouped. The native populations of the Pacific Islands (4 populations) and the Americas (7 populations) have the lowest (but still very good) median heterozygosities of 0.53 and 0.54, respectively. Most of the 31 microhaps are on separate chromosomes or separated by molecular distances (>95 Mb) at which linkage is unlikely to exist. Eleven inter-microhap distances among syntenic loci are smaller (up to 67 Mb, cf. Table 1) and cannot be assumed to be segregating independently in families. However, the molecular extent of linkage disequilibrium (LD) varies greatly around the genome and occasionally exceeds 100 kb.