Analyses of more than 60,000 exomes questions the role of numerous genes previously associated with dilated cardiomyopathy

BACKGROUND: Hundreds of genetic variants have been described as disease causing in dilated cardiomyopathy (DCM). Some of these associations are now being questioned. We aimed to identify the prevalence of previously DCM associated variants in the Exome Aggregation Consortium (ExAC), in order to identify potentially false‐positive DCM variants. METHODS: Variants listed as DCM disease‐causing variants in the Human Gene Mutation Database were extracted from ExAC. Pathogenicity predictions for these variants were mined from dbNSFP v 2.9 database. RESULTS: Of the 473 DCM variants listed in HGMD, 148 (31%) were found in ExAC. The expected number of individuals with DCM in ExAC is 25 based on the prevalence in the general population. Yet, 35 variants were found in more than 25 individuals. In 13 genes, we identified all variants previously associated with DCM; four genes contained variants above our estimated cut‐off. Prediction tools found ExAC variants to be significantly more tolerated when compared to variants not found in ExAC (P = 0.004). CONCLUSION: In ExAC, we identified a higher genotype prevalence of variants considered disease‐causing than expected. More importantly, we found 13 genes in which all variants previously associated with DCM were identified in ExAC, questioning the association of these genes with the monogenic form of DCM

Study Protocol : Text Performers—Using Speech-to-Text Technology to Support Students With Dyslexia During Text Production

This protocol article describes the background, theoretical framework, and methods for two intervention studies using assistive technology to produce text. The participants will be 15 10–12-year-old students with dyslexia from Denmark, Norway, and Sweden. The first study aims to examine how an intervention focusing on using speech-to-text technology influences texts written by students with dyslexia, and the second study aims to investigate the writing process when students with dyslexia use speech-to-text technology. Study 1 uses a multiple baseline design, whereas Study 2 uses verbal protocols

Symptom-Specific Hospital Contacts in 12–18-Year-Olds Vaccinated against COVID-19: A Danish Register-Based Cohort Study

In this register-based real-life cohort study, changes in symptom-specific hospital contacts among 12–18-year-olds following two doses of the BNT162b2 COVID-19 vaccine compared to unvaccinated peers were investigated. Using national register data, vaccinated and unvaccinated adolescents were sex and age-matched each week during the inclusion period from May to September 2021. Symptom-specific hospital contacts covering ICD-10 R diagnoses were assessed before first the vaccine dose and after the second vaccine dose. Taking previous rates of symptom-specific hospital contacts into account, differences between vaccinated and unvaccinated adolescents were found. For some hospital contacts, higher rates were seen among the vaccinated, and for others, higher rates were seen among the unvaccinated. Unspecific cognition symptoms may be important to monitor in vaccinated girls, and likewise for throat and chest pain in vaccinated boys within the first months post-vaccination. In perspective, symptom-specific hospital contacts after vaccination against COVID-19 must be assessed by taking the risk of infection and symptoms following COVID-19 infection into account