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2017 ; 40
(2
): 530-539
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Evaluation of MC1R high-throughput nucleotide sequencing data generated by the
1000 Genomes Project
#MMPMID28486572
Marano LA
; Marcorin L
; Castelli EC
; Mendes-Junior CT
Genet Mol Biol
2017[Apr]; 40
(2
): 530-539
PMID28486572
show ga
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.