163 research outputs found

    Author Correction: Whole-genome sequencing of 1,171 elderly admixed individuals from Brazil (vol 13, 1004, 2022)

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    The original version of this Article contained an error in the title, which was previously incorrectly given as ‘Whole-genome sequencing of 1,171 elderly admixed individuals from São Paulo, Brazil’. The correct version removes the word “São Paulo”. This has been corrected in both the PDF and HTML versions of the Article.Human Genome and Stem Cell Research Center University of São Paulo, SPDepartment of Genetics and Evolutionary Biology Biosciences Institute University of São Paulo, SPHospital Israelita Albert Einstein, SPInstituto da Criança Faculdade de Medicina da Universidade de São Paulo, SPOrthopedic Research Labs Boston Children’s Hospital and Department of Genetics Harvard Medical SchoolLaboratório DASALaboratory of Genome Structure and Ageing European Research Institute for the Biology of Ageing University Medical Center GroningenSão Paulo State University (UNESP) Molecular Genetics and Bioinformatics Laboratory School of Medicine, State of São PauloSão Paulo State University (UNESP) Department of Pathology School of Medicine, State of São PauloDepartamento de Química Faculdade de Filosofia Ciências e Letras de Ribeirão Preto Universidade de São Paulo, São PauloCentro de Oncologia Molecular Hospital Sirio-LibanesDepartment of Biochemistry Institute of Chemistry University of São Paulo São PauloBioinformatics Graduate program University of São PauloDepartamento de Genética Ecologia e Evolução Instituto de Ciências Biológicas Universidade Federal de Minas Gerais, MGNúcleo de Ensino e Pesquisa Instituto Mário Penna, MGLaboratorio de Biotecnologia y Biologia Molecular Instituto Nacional de SaludUniversidad de HuánucoDivision of Cancer Epidemiology and Genetics National Cancer InstituteInstituto de Saúde Coletiva Universidade Federal da Bahia, BACenter for Data and Knowledge Integration for Health Institute Gonçalo Muniz Fundação Oswaldo Cruz, BAInstituto de Pesquisas René Rachou Fundação Oswaldo Cruz, MGPrograma De Pós-Graduação em Saúde Pública Universidade Federal de Minas Gerais, MGPrograma de Pós-Graduação em Epidemiologia Universidade Federal de Pelotas, RSMosaico Translational Genomics Initiative Universidade Federal de Minas Gerais, MGFacultad de Salud Pública y Administración Universidad Peruana Cayetano HerediaInstituto de Estudos Avançados Transdisciplinares Universidade Federal de Minas Gerais, MGMedical-Surgical Nursing Department School of Nursing University of São Paulo, SPEpidemiology Department Public Health School University of São Paulo, SPSão Paulo State University (UNESP) Molecular Genetics and Bioinformatics Laboratory School of Medicine, State of São PauloSão Paulo State University (UNESP) Department of Pathology School of Medicine, State of São Paul

    Whole-genome sequencing of 1,171 elderly admixed individuals from Brazil

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    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

    Study protocol for the multicentre cohorts of Zika virus infection in pregnant women, infants, and acute clinical cases in Latin America and the Caribbean: The ZIKAlliance consortium

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    Background: The European Commission (EC) Horizon 2020 (H2020)-funded ZIKAlliance Consortium designed a multicentre study including pregnant women (PW), children (CH) and natural history (NH) cohorts. Clinical sites were selected over a wide geographic range within Latin America and the Caribbean, taking into account the dynamic course of the ZIKV epidemic. Methods: Recruitment to the PW cohort will take place in antenatal care clinics. PW will be enrolled regardless of symptoms and followed over the course of pregnancy, approximately every 4 weeks. PW will be revisited at delivery (or after miscarriage/abortion) to assess birth outcomes, including microcephaly and other congenital abnormalities according to the evolving definition of congenital Zika syndrome (CZS). After birth, children will be followed for 2 years in the CH cohort. Follow-up visits are scheduled at ages 1-3, 4-6, 12, and 24 months to assess neurocognitive and developmental milestones. In addition, a NH cohort for the characterization of symptomatic rash/fever illness was designed, including follow-up to capture persisting health problems. Blood, urine, and other biological materials will be collected, and tested for ZIKV and other relevant arboviral diseases (dengue, chikungunya, yellow fever) using RT-PCR or serological methods. A virtual, decentralized biobank will be created. Reciprocal clinical monitoring has been established between partner sites. Substudies of ZIKV seroprevalence, transmissio
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