ArticleNPJ genomic medicine2020
The Brazilian Initiative on Precision Medicine (BIPMed): fostering genomic data-sharing of underrepresented populations.
Article in NPJ genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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Who cites it
24 citing papers in PubMed.
- ACE gene polymorphisms (rs4340) II and DI are more responsive to the ergogenic effect of caffeine than DD on aerobic power, heart rate, and perceived exertion in a homogeneous Brazilian group of adolescent athletes.Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologica · 2024Trial
- Polygenic risk scores: Navigating the future of precision medicine through economic, ethical, and scientific advancements.iScience · 2026Review
- Exploring genetic diversity in genome-wide association studies and polygenic risk scores in the admixed Brazilian population.Genetics and molecular biology · 2026Article
- Population molecular genetics in Brazil: From genomic databases and research to the implementation of precision medicine.Journal of community genetics · 2025Review
- Egypt Genome: Towards an African new genomic era.Journal of advanced research · 2025Review
- Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile.European journal of human genetics : EJHG · 2024Article
- The CABANA model 2017-2022: research and training synergy to facilitate bioinformatics applications in Latin America.Frontiers in education · 2024Article
- Human genetic determinants of COVID-19 in Brazil: challenges and future plans.Genetics and molecular biology · 2024Article
- Reshaping neuroimmunology: diagnosis and treatment in the era of precision medicine.Arquivos de neuro-psiquiatria · 2023Review
- Commoning genomic solidarity to improve global health equality.Cell genomics · 2023Review
- Putative role of HLA polymorphism among a Brazilian HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP) population.Scientific reports · 2023Article
- Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil: an expert perspective.International journal for equity in health · 2023Review
- A review of ancestrality and admixture in Latin America and the caribbean focusing on native American and African descendant populations.Frontiers in genetics · 2023Review
- Host genetic susceptibility underlying SARS-CoV-2-associated Multisystem Inflammatory Syndrome in Brazilian Children.Molecular medicine (Cambridge, Mass.) · 2022Article
- Diagnostic reasoning in neurogenetics: a general approach.Arquivos de neuro-psiquiatria · 2022Review
- Precision medicine implementation challenges forFrontiers in genetics · 2022Article
- Multidisciplinary Effort to Drive Precision-Medicine for the Future.Frontiers in digital health · 2022Article
- Increased runs of homozygosity in the autosomal genome of Brazilian individuals with neurodevelopmental delay/intellectual disability and/or multiple congenital anomalies investigated by chromosomal microarray analysis.Genetics and molecular biology · 2022Article
- The importance of increasing population diversity in genetic studies of type 2 diabetes and related glycaemic traits.Diabetologia · 2021Review
- Genetic variability in COVID-19-related genes in the Brazilian population.Human genome variation · 2021Article
Corrections and comments
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Authors and funding
5 authors.
Funding
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.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.