| Full text | |
| Author(s): Show less - |
Naslavsky, Michel S.
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Scliar, Marilia O.
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Yamamoto, Guilherme L.
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Wang, Jaqueline Yu Ting
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Zverinova, Stepanka
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Karp, Tatiana
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Nunes, Kelly
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Magliocco Ceroni, Jose Ricardo
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de Carvalho, Diego Lima
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da Silva Simoes, Carlos Eduardo
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Bozoklian, Daniel
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Nonaka, Ricardo
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Brito Silva, Nayane dos Santos
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Souza, Andreia da Silva
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Andrade, Heloisa de Souza
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Silva Passos, Marilia Rodrigues
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Bannwart Castro, Camila Ferreira
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Mendes-Junior, Celso T.
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Mercuri, Rafael L., V
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Miller, Thiago L. A.
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Buzzo, Jose Leonel
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Rego, Fernanda O.
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Araujo, Nathalia M.
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Magalhaes, Wagner C. S.
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Mingroni-Netto, Regina Celia
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Borda, Victor
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Guio, Heinner
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Rojas, Carlos P.
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Sanchez, Cesar
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Caceres, Omar
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Dean, Michael
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Barreto, Mauricio L.
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Lima-Costa, Maria Fernanda
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Horta, Bernardo L.
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Tarazona-Santos, Eduardo
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Meyer, Diogo
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Galante, Pedro A. F.
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Guryev, Victor
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Castelli, Erick C.
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Duarte, Yeda A. O.
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Passos-Bueno, Maria Rita
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Zatz, Mayana
Total Authors: 42
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| Document type: | Journal article |
| Source: | NATURE COMMUNICATIONS; v. 13, n. 1, p. 11-pg., 2022-03-04. |
| 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 similar to 2 million are absent from large public databases. WGS enables identification of similar to 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. (AU) | |
| FAPESP's process: | 12/24731-1 - Retrocopies: origins, polymorphism and somatic variations |
| Grantee: | Pedro Alexandre Favoretto Galante |
| Support Opportunities: | Research Grants - Young Investigators Grants |
| FAPESP's process: | 20/02413-4 - Intragenic retrocopies as a source of novel protein domains in humans |
| Grantee: | Rafael Luiz Vieira Mercuri |
| Support Opportunities: | Scholarships in Brazil - Doctorate (Direct) |
| FAPESP's process: | 14/50649-6 - SABE study: a longitudinal study of multiple cohorts on the elderly life and health conditions in the municipality of São Paulo - cohort 2015 |
| Grantee: | Yeda Aparecida de Oliveira Duarte |
| Support Opportunities: | Research Projects - Thematic Grants |
| FAPESP's process: | 13/08028-1 - CEGH-CEL - Human Genome and Stem Cell Research Center |
| Grantee: | Mayana Zatz |
| Support Opportunities: | Research Grants - Research, Innovation and Dissemination Centers - RIDC |
| FAPESP's process: | 18/15579-8 - Retroelements: a driving force generating genetic novelties in the human and mouse genome |
| Grantee: | Pedro Alexandre Favoretto Galante |
| Support Opportunities: | Research Grants - Young Investigators Grants - Phase 2 |
| FAPESP's process: | 15/25020-0 - Retroelements in primary and metastatic colorectal tumors. |
| Grantee: | Fernanda Orpinelli Ramos do Rego |
| Support Opportunities: | Scholarships in Brazil - Doctorate |
| FAPESP's process: | 17/19223-0 - KIR2DL4, KIR3DL2, KIR3DL3, LILRB1 (ILT2) and LILRB2 (ILT4) variability and haplotypes in a Brazilian population sample from the São Paulo state |
| Grantee: | Erick da Cruz Castelli |
| Support Opportunities: | Regular Research Grants |
| FAPESP's process: | 13/17084-2 - Evaluation of MHC Class I genes variability, regulation and evolutive history |
| Grantee: | Erick da Cruz Castelli |
| Support Opportunities: | Regular Research Grants |