Deleterious coding variation associated with autism is consistent across populations, as exemplified by admixed Latin American populations.

Unlabelled: The past decade has seen remarkable progress in identifying genes that, when impacted by deleterious coding variation, confer high risk for autism spectrum disorder (ASD), intellectual disability, and other developmental disorders. However, most underlying gene discovery efforts have focused on individuals of European ancestry, limiting insights into genetic risks across diverse populations. To help address this, the Genomics of Autism in Latin American Ancestries Consortium (GALA) was formed, presenting here the largest sequencing study of ASD in Latin American individuals (n>15,000).

Adaptation and validation of a tool for the quality assessment of genetic counseling in Brazil: perspectives from clinical geneticists.

In 2018, Portuguese researchers proposed the "Tool for Quality Assessment of Genetic Counseling," a 5-point Likert scale comprising 50 items across five dimensions, designed to assess genetic counseling from the professional's perspective. This descriptive, cross-sectional study aimed to adapt this tool to Brazilian Portuguese, validate it among Brazilian clinical geneticists, and conduct a preliminary assessment of the quality of genetic counseling in Brazil. The adaptation process involved expert-driven content validation and calculation of the Content Validity Index (CVI) to ensure equivalence between the original and adapted versions.

Low-Impedance Hybrid Carbon Structures on SiO: A Sequential Gas-Phase Coating Approach.

Carbon coating on SiO surface is crucial for enhancing initial Coulombic efficiency (ICE) and cycling performance in batteries, while also buffering volume expansion. Despite its market prevalence, the effects of the carbon layer's quality and structure on the electrochemical properties of SiO remain underexplored. This study compares carbon layers produced via gas-phase and solid-phase coating methods, introducing an innovative technique that sequentially uses two gases to develop a low-impedance hybrid carbon structure.

Beekeepers' perceptions toward a new omics tool for monitoring bee health in Europe.

Pressures on honey bee health have substantially increased both colony mortality and beekeepers' costs for hive management across Europe. Although technological advances could offer cost-effective solutions to these challenges, there is little research into the incentives and barriers to technological adoption by beekeepers in Europe. Our study is the first to investigate beekeepers' willingness to adopt the Bee Health Card, a molecular diagnostic tool developed within the PoshBee EU project which can rapidly assess bee health by monitoring molecular changes in bees.