Detection of mosaic and population-level structural variants with Sniffles2

Calling structural variations (SVs) is technically challenging, but using long reads remains the most accurate way to identify complex genomic alterations. Here we present Sniffles2, which improves over current methods by implementing a repeat aware clustering coupled with a fast consensus sequence and coverage-adaptive filtering. Sniffles2 is 11.8 times faster and 29% more accurate than state-of-the-art SV callers across different coverages (5–50×), sequencing technologies (ONT and HiFi) and SV types. Furthermore, Sniffles2 solves the problem of family-level to population-level SV calling to produce fully genotyped VCF files. Across 11 probands, we accurately identified causative SVs around MECP2, including highly complex alleles with three overlapping SVs. Sniffles2 also enables the detection of mosaic SVs in bulk long-read data. As a result, we identified multiple mosaic SVs in brain tissue from a patient with multiple system atrophy. The identified SV showed a remarkable diversity within the cingulate cortex, impacting both genes involved in neuron function and repetitive elements

Violência contra a mulher na rede de atenção básica: o que os enfermeiros sabem sobre o problema? Violence against women in the basic care network: what do nurses know about the problem?

OBJETIVOS: descrever o conhecimento dos enfermeiros das Unidades Distritais Básicas de Saúde do município de Ribeirão Preto, SP, Brasil, acerca da violência contra a mulher, particularmente aquela cometida pelo parceiro íntimo. MÉTODOS: estudo quantitativo, transversal e descritivo. Participaram 51 enfermeiros, extraídos de um estudo maior com 221 profissionais de saúde. Os dados foram coletados por meio de questionário que investigava o conhecimento em relação à violência cometida contra as mulheres. RESULTADOS: os enfermeiros acertaram de 76% a 90,2% das questões sobre definição de violência de gênero e 78% obtiveram altos escores em questões sobre epidemiologia da violência; no entanto, 70,6% demonstraram desconhecer sua epidemiologia nos serviços de pré-natal. 83,7% dos enfermeiros demonstraram bom conhecimento sobre como abordar as vítimas para obter a revelação da violência ocorrida e 52% demonstraram conhecimento elevado sobre o manejo dos casos. CONCLUSÕES: os enfermeiros conhecem bem a definição de violência, têm conhecimentos sobre o manejo de casos, a necessidade de notificação e encaminhamentos de casos em situação de risco. Entretanto, desconhecem características epidemiológicas importantes da violência contra a mulher, o que pode ser uma barreira para a atuação dos enfermeiros no atendimento a mulheres em situação de risco, principalmente durante a atenção no pré-natal.<br>OBJECTIVES: to outline what nurses from the District Basic Care Units of the municipality of Ribeirão Preto, in the Brazilian State of São Paulo, know about violence against women, especially that perpetrated by an intimate partner. METHODS: a quantitative, cross-sectional, descriptive study was carried out with 51 nurses drawn from a larger study of 221 health workers. The data were collected using a questionnaire that asked about their knowledge regarding violence against women. RESULTS: the nurses correctly answered 76% to 90.2% of the questions on the definition of gender violence and 78% obtained high scores on questions relating to the epidemiology of violence. However, 70.6% showed no knowledge of the epidemiology of violence in prenatal services. 83.7% of the nurses showed good knowledge of how to deal with victims to get them to report the abuse and 52% showed a good knowledge of case management. CONCLUSIONS: nurses are well aware of what violence is and have knowledge about how to manage cases and the need to report abuse and refer women who are at risk. However, they are unaware of important epidemiological features of violence against women, which may pose an obstacle to their ability to attend women at risk, especially during prenatal care