Abstract
The development of precision medicine strategies requires prior knowledge of the genetic background of the target population. However, despite the availability of data from admixed Americans within large reference population databases, we cannot use these data as a surrogate for that of the Brazilian population. This lack of transferability is mainly due to differences between ancestry proportions of Brazilian and other admixed American populations. To address the issue, a coalition of research centres created the Brazilian Initiative on Precision Medicine (BIPMed). In this study, we aim to characterise two datasets obtained from 358 individuals from the BIPMed using two different platforms: whole-exome sequencing (WES) and a single nucleotide polymorphism (SNP) array. We estimated allele frequencies and variant pathogenicity values from the two datasets and compared our results using the BIPMed dataset with other public databases. Here, we show that the BIPMed WES dataset contains variants not included in dbSNP, including 6480 variants that have alternative allele frequencies (AAFs) >1%. Furthermore, after merging BIPMed WES and SNP array data, we identified 809,589 variants (47.5%) not present within the 1000 Genomes dataset. Our results demonstrate that, through the incorporation of Brazilian individuals into public genomic databases, BIPMed not only was able to provide valuable knowledge needed for the implementation of precision medicine but may also enhance our understanding of human genome variability and the relationship between genetic variation and disease predisposition.
Highlights
Precision medicine combines molecular and clinical information to improve healthcare delivery
After performing a comparison of Brazilian Initiative on Precision Medicine (BIPMed) data with the 1000 Genomes datasets, we found that rare variants in European (75,584; 9.2%), sub-Saharan African (67,109; 8.2%), and admixed American populations (34,360; 4.2%) were common in the BIPMed database
The application of precision medicine in admixed American populations requires a refined knowledge of the environmental exposure, lifestyle, biological susceptibility, and genomic structure of their admixed genomes[15,31]
Summary
Precision medicine combines molecular and clinical information to improve healthcare delivery. Since precision medicine uses individualised information from patients, such as genomic signatures, it allows for more accurate diagnoses and tailored treatment options[1,2]. This approach is a significant improvement over the current paradigm in which physicians prescribe therapeutics designed to most effectively treat the average patient. The development of strategies used in precision medicine requires detailed knowledge of the genetic background of the population throughout which it will be applied This approach is important because the distribution of rare and common variants may differ depending on the population considered[4,5,6,7,8]. This issue is more challenging for admixed American populations since their genomes present a mosaic of chromosomal tracts derived from different ancestral populations[9,10,11]
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