ArticleNature communications2022
Whole-genome sequencing of 1,171 elderly admixed individuals from São Paulo, Brazil.
Article in Nature communications, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 64 papers.
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Who cites it
64 citing papers in PubMed.
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- Global recommendations for the use of diagnostic genomic sequencing in the prenatal setting on behalf of the ESHG and ISPD.European journal of human genetics : EJHG · 2026Article
- Genetic landscape of phenylketonuria in Brazil.Orphanet journal of rare diseases · 2026Article
- A Structural Variant in the 5' Regulatory Region ofInternational archives of otorhinolaryngology · 2026Article
- Clinical and molecular characterization of a large Brazilian lung cancer cohort: a real-world observational study.Lancet regional health. Americas · 2026Article
- Mapping the Prevalence of Lynch Syndrome in the Ceará-Northeast of Brazil.Clinical genetics · 2026Article
- Enabling global-scale nucleic acid repositories through versatile, scalable biochemical selection from room-temperature archives.Nature communications · 2026Article
- Genome-wide association study identifies novel and confirms established loci associated with serum lipids levels in Brazilians.Human genetics · 2026Article
- Exploring genetic diversity in genome-wide association studies and polygenic risk scores in the admixed Brazilian population.Genetics and molecular biology · 2026Article
- When exome analysis is the key for your patient with cognitive decline: a case report.Dementia & neuropsychologia · 2026Article
- Obesity in young adults: The differentiated impact of LEP, LEPR, and FTO gene variants.Genetics and molecular biology · 2026Article
- Distribution ofFrontiers in pharmacology · 2026Article
- Prevalence of actionable pharmacogenomic variants in Brazilian patients with cancer.Frontiers in pharmacology · 2026Article
- Liquid-based genomic profiling in high-risk localized prostate cancer.Frontiers in urology · 2026Article
- Characterization of a novel MSH2 variant in Lynch syndrome: clinical data and complementary bioinformatics assessment.Einstein (Sao Paulo, Brazil) · 2026Article
- Frequent Detection ofHuman mutation · 2026Article
- Genotyping of DPYD and UGT1A1 in Brazilian oncological patients: applying pharmacogenomics in an admixed population.Revista da Associacao Medica Brasileira (1992) · 2026Article
- Genomic landscape of autism spectrum disorder in Brazil.Genetics and molecular biology · 2026Article
- High-quality Population-specific Haplotype-resolved Reference Panel in the Genomic and Pangenomic Eras.Genomics, proteomics & bioinformatics · 2025Review
- Creating the Slovenian genome database and browser as a source of comprehensive variation of the Slovenian population.Scientific reports · 2025Article
4 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
42 authors.
Funding
Abstract
As whole-genome sequencing (WGS) becomes the gold standard tool for studying population genomics and medical applications, data on diverse non-European and admixed individuals are still scarce. Here, we present a high-coverage WGS dataset of 1,171 highly admixed elderly Brazilians from a census-based cohort, providing over 76 million variants, of which ~2 million are absent from large public databases. WGS enables identification of ~2,000 previously undescribed mobile element insertions without previous description, nearly 5 Mb of genomic segments absent from the human genome reference, and over 140 alleles from HLA genes absent from public resources. We reclassify and curate pathogenicity assertions for nearly four hundred variants in genes associated with dominantly-inherited Mendelian disorders and calculate the incidence for selected recessive disorders, demonstrating the clinical usefulness of the present study. Finally, we observe that whole-genome and HLA imputation could be significantly improved compared to available datasets since rare variation represents the largest proportion of input from WGS. These results demonstrate that even smaller sample sizes of underrepresented populations bring relevant data for genomic studies, especially when exploring analyses allowed only by WGS.
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