Pitfalls in performing genome-wide association studies on ratio traits.

Genome-wide association studies (GWAS) are often performed on ratios composed of a numerator trait divided by a denominator trait. Examples include body mass index (BMI) and the waist-to-hip ratio, among many others. Explicitly or implicitly, the goal of forming the ratio is typically to adjust for an association between the numerator and denominator.

EmbedGEM: a framework to evaluate the utility of embeddings for genetic discovery.

Summary: Machine learning-derived embeddings are a compressed representation of high content data modalities. Embeddings can capture detailed information about disease states and have been qualitatively shown to be useful in genetic discovery. Despite their promise, embeddings have a major limitation: it is unclear if genetic variants associated with embeddings are relevant to the disease or trait of interest.

Integrating genome-wide information and wearable device data to explore the link of anxiety and antidepressants with pulse rate variability.

This study explores the genetic and epidemiologic correlates of long-term photoplethysmography-derived pulse rate variability (PRV) measurements with anxiety disorders. Individuals with whole-genome sequencing, Fitbit, and electronic health record data (N = 920; 61,333 data points) were selected from the All of Us Research Program. Anxiety polygenic risk scores (PRS) were derived with PRS-CS after meta-analyzing anxiety genome-wide association studies from three major cohorts- UK Biobank, FinnGen, and the Million Veterans Program (N =364,550).

Person-first and identity-first disability language: Informing client centred care.

Background: Addressing individuals with a disability can entail the use of person-first (person with a disability) or identity-first language (disabled person). However, there has been debate about use of these terms, yet there is a lack of evidence to inform preference across people with a broad range of health conditions, demographics, or health related factors.

Methods: A 42-item survey measuring demographic and health condition factors, implicit and explicit preference for person-first and identity-first language use was open for completion by individuals with a self-reported health condition between July 7, 2021 and November 30, 2021.

Utilization of health-related data in the regional context for health service planning in the Federal State of Brandenburg, Germany-a qualitative study.

Background: Utilizing regional health data goes hand in hand with challenges: can they be used for health planning, are they applicable to the relevant topics? The study explores current data utilization and needs of stakeholders working in regional health services planning.

Methods: We conducted 16 semi-structured expert-interviews with stakeholders of regional health planning in Brandenburg, a federal state in the north-east of Germany, by telephone or online-meeting tools between 05/2022 and 03/2023. The data were analysed according to qualitative content analysis.