Whole-genome sequencing of 1,171 elderly admixed individuals from the largest Latin American metropolis (São Paulo, Brazil) Article Swipe
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· 2020
· Open Access
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· DOI: https://doi.org/10.1101/2020.09.15.298026
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 enabled identifying ~2,000 novel mobile element insertions, nearly 5Mb of genomic segments absent from human genome reference, and over 140 novel alleles from HLA genes. We reclassified and curated nearly four hundred variant's pathogenicity assertions in genes associated with dominantly inherited Mendelian disorders and calculated the incidence for selected recessive disorders, demonstrating the clinical usefulness of the present study. Finally, we observed 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.
Related Topics
- Type
- preprint
- Language
- en
- Landing Page
- https://doi.org/10.1101/2020.09.15.298026
- https://www.biorxiv.org/content/biorxiv/early/2020/09/16/2020.09.15.298026.full.pdf
- OA Status
- green
- Cited By
- 19
- References
- 68
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4249571280
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4249571280Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1101/2020.09.15.298026Digital Object Identifier
- Title
-
Whole-genome sequencing of 1,171 elderly admixed individuals from the largest Latin American metropolis (São Paulo, Brazil)Work title
- Type
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preprintOpenAlex work type
- Language
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enPrimary language
- Publication year
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2020Year of publication
- Publication date
-
2020-09-16Full publication date if available
- Authors
-
Michel Satya Naslavsky, Marília O. Scliar, Guilherme Lopes Yamamoto, Jaqueline Yu Ting Wang, Stepanka Zverinova, Tatiana Karp, Kelly Nunes, José Ricardo Magliocco Ceroni, Diego Lima de Carvalho, Carlos Eduardo da Silva Simões, Daniel Bozoklian, Ricardo Nonaka, Nayane dos Santos Brito Silva, Andréia S. Souza, Heloisa S. Andrade, Marília Rodrigues Silva Passos, Camila Ferreira Bannwart Castro, Celso Teixeira Mendes‐Junior, Rafael L. V. Mercuri, Thiago L. A. Miller, José Leonel Buzzo, Fernanda Orpinelli Ramos do Rego, Nathalia Matta Araujo, Wagner C. S. Magalhães, Regina Célia Mingroni‐Netto, Víctor Borda, Heinner Guio, Maurício L. Barreto, Maria Fernanda Lima‐Costa, Bernardo Lessa Horta, Eduardo Tarazona‐Santos, Diogo Meyer, Pedro A. F. Galante, Victor Guryev, Erick C. Castelli, Yeda A. O. Duarte, Maria Rita Passos‐Bueno, Mayana ZatzList of authors in order
- Landing page
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https://doi.org/10.1101/2020.09.15.298026Publisher landing page
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https://www.biorxiv.org/content/biorxiv/early/2020/09/16/2020.09.15.298026.full.pdfDirect link to full text PDF
- Open access
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YesWhether a free full text is available
- OA status
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greenOpen access status per OpenAlex
- OA URL
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https://www.biorxiv.org/content/biorxiv/early/2020/09/16/2020.09.15.298026.full.pdfDirect OA link when available
- Concepts
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Imputation (statistics), Whole genome sequencing, Genetics, Biology, 1000 Genomes Project, Genome, Genomics, Genome-wide association study, Mendelian inheritance, Population, Reference genome, Computational biology, Gene, Single-nucleotide polymorphism, Medicine, Computer science, Missing data, Genotype, Environmental health, Machine learningTop concepts (fields/topics) attached by OpenAlex
- Cited by
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19Total citation count in OpenAlex
- Citations by year (recent)
-
2023: 1, 2022: 4, 2021: 14Per-year citation counts (last 5 years)
- References (count)
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68Number of works referenced by this work
- Related works (count)
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10Other works algorithmically related by OpenAlex
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