ABSTRACT
Abstract The advent of next-generation sequencing allows simultaneous processing of several genomic regions/individuals, increasing the availability and accuracy of whole-genome data. However, these new approaches may present some errors and bias due to alignment, genotype calling, and imputation methods. Despite these flaws, data obtained by next-generation sequencing can be valuable for population and evolutionary studies of specific genes, such as genes related to how pigmentation evolved among populations, one of the main topics in human evolutionary biology. Melanocortin-1 receptor (MC1R) is one of the most studied genes involved in pigmentation variation. As MC1R has already been suggested to affect melanogenesis and increase risk of developing melanoma, it constitutes one of the best models to understand how natural selection acts on pigmentation. Here we employed a locally developed pipeline to obtain genotype and haplotype data for MC1R from the raw sequencing data provided by the 1000 Genomes FTP site. We also compared such genotype data to Phase 3 VCF to evaluate its quality and discover any polymorphic sites that may have been overlooked. In conclusion, either the VCF file or one of the presently described pipelines could be used to obtain reliable and accurate genotype calling from the 1000 Genomes Phase 3 data.
ABSTRACT
We investigated 50 Mulatto and 120 White Brazilians for the Y-chromosome short tandem repeat (Y-STR) markers (DYS19, DYS390, DYS391, DYS392 and DYS393) and found 79 different haplotypes in the White and 35 in the Mulatto sample. Admixture estimates based on allele frequencies showed that the admixture of the white sample was 89 percent European, 6 percent African and 5 percent Amerindian while the Mulatto sample was 93 percent European and 7 percent African. Results were consistent with historical records of the directional mating between European males and Amerindian or African females.
Subject(s)
Humans , Male , Y Chromosome/genetics , Genetics, Population , Black People/genetics , White People/genetics , Brazil/ethnology , DNA Fingerprinting , Genetic Variation , Polymerase Chain Reaction , Tandem Repeat SequencesABSTRACT
Microsatellite markers or SSR (Simple Sequence Repeats) have proved to be an excellent tool for cultivar identification, pedigree analysis and the evaluation of genetic distance among organisms. Soybean cultivars have been characterized mainly by morphological and biochemical traits. However, these traits have not been sufficient to characterize the large number of cultivars eligible to receive protection under the Brazilian Cultivar Protection Act. In order to define new soybean cultivar markers, the alleles of twelve SSR loci of 186 Brazilian soybean cultivars were studied by estimating the variation in their size range and their respective frequencies. On average, 5.3 alleles per locus were detected, with a mean genetic diversity of 0.64 ± 0.12. These loci were used to distinguish morphologically similar groups, presenting a mean similarity coefficient of 0.46; their use allowed to determine 184 profiles for the 186 cultivars. A dendrogram based on the SSR loci profiles showed good agreement with the cultivar pedigree information