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.
Subject(s)
Genomics , Metagenomics , Aged , Brazil/epidemiology , Genome, Human/genetics , Genomics/methods , Humans , Polymorphism, Single Nucleotide , Whole Genome SequencingABSTRACT
Objetivou-se verificar os fatores associados ao parto cesáreo, baixa cobertura de pré-natal ebaixo peso ao nascer no Estado do Paraná. Estudo ecológico com todos os nascidos vivos demães residentes no Estado em 2007 registrados no Sistema de Informações sobre NascidosVivos (Sinasc). O parto cesáreo, a baixa coberturade pré-natal e o baixo peso foramanalisados através da correlação de Pearson segundoporte populacional dos municípios.Houve correlação do parto cesáreo com indicadores socioeconômicos nos três portes.Correlações positivas da baixa cobertura de pré-natal com indicadores de piores condições devida e correlação negativa com cobertura de Estratégia Saúde da Família (ESF) para o Estado.O baixo peso esteve correlacionado ao índice de envelhecimento, cobertura de ESF,prematuridade e vitalidade do recém-nascido. A análise por porte populacional podedirecionar as ações em saúde do Estado e das Regionais de Saúde às especificidades de cadagrupo de municípios .
The objective was to assess the factors associatedwith cesarean section, low prenatalcoverage and low birth weight in Paraná State, Brazil. It was an ecological study of all livebirths from mothers residing in the state in 2007 and recorded in the Live Birth InformationSystem (Sinasc). Cesarean section, low prenatal coverage and low weight were analyzed byPearsons correlation according to city populationsize. There was a correlation betweencesarean section and socioeconomic indicators in all three sizes. Positive correlations werefound between low prenatal coverage and indicatorsof inferior living conditions, andnegative correlation with Family Health Strategy (ESF) coverage for the state. Low weightwas correlated with the aging index, ESF coverage,prematurity and newborn vitality. Analysis by city size can guide health actions by the state and Regional Health Authoritiestowards the specificities of each group of cities .
Se objetivó verificar factores asociados al parto por cesárea, baja cobertura de prenatal y bajopeso al nacer en el Estado de Paraná. Estudio ecológico con todos los nacidos vivos demadres residentes en el Estado en 2007. La cesárea,la baja cobertura de prenatal y el bajopeso fueron analizados según correlación de Pearson, de acuerdo al porte poblacional de losmunicipios. Existió correlación del parto por cesárea con indicadores socioeconómicos en lostres portes. Correlaciones positivas de la baja cobertura de prenatal con indicadores de peorescondiciones de vida y correlación negativa con cobertura de Estrategia Salud de la Familia(ESF) para el Estado. El bajo peso se correlacionóal índice de envejecimiento, cobertura deESF, prematuridad y vitalidad del recién nacido. Elanálisis de porte poblacional puedeorientar acciones en salud del Estado y de las Regionales de Salud según las especificidadesde cada grupo de municipios .
