UniVar: A variant interpretation platform enhancing rare disease diagnosis through robust filtering and unified analysis of SNV, INDEL, CNV and SV.

Background: Interpreting the pathogenicity of genetic variants associated with rare diseases is a laborious and time-consuming endeavour. To streamline the diagnostic process and lighten the burden of variant interpretation, it is crucial to automate variant annotation and prioritization. Unfortunately, currently available variant interpretation tools lack a unified and comprehensive workflow that can collectively assess the clinical significance of these types of variants together: small nucleotide variants (SNVs), small insertions/deletions (INDELs), copy number variants (CNVs) and structural variants (SVs).

Clinical and Biomarker Determinants for Recurrent Stroke in Patients With Atrial Fibrillation: A Systematic Review and Meta-Analysis.

Background And Objectives: Despite effective secondary prevention, including oral anticoagulant (OAC) therapy, the risk of recurrent stroke (RS) in patients with atrial fibrillation (AF) remains substantial with an annualized risk of 3.2%-6.5% per year.

Effectiveness and cost-effectiveness of an app and rewards-based intervention in type 2 diabetes: A randomised controlled trial.

Aim: Digital health interventions and economic incentives have shown promise in facilitating diabetes self-management, though evidence is limited. Therefore, this study aimed to evaluate the effectiveness and cost-effectiveness of a comprehensive app-based diabetes self-management programme with rewards for healthy behaviours and health outcomes.

Materials And Methods: The TRIal to slow the Progression Of Diabetes (TRIPOD) study was an open-label, parallel-group, randomised controlled trial conducted at Duke-NUS Medical School, Singapore.

The Renewing Intimacy and SExuality Intervention for Female Cancer Survivors: A Feasibility Study.

Purpose: This study examined the feasibility and acceptability of a three-session, psychological-based intervention to improve intimacy and sexuality outcomes among women with breast and gynaecologic cancer in Singapore.

Method: Patients from outpatient oncology clinics completed screeners for marital and sexual distress. Those who endorsed either marital or sexual distress were invited into the study, and were randomized to receive the intervention immediately or be waitlisted.

Impact of Body Image Perception on Behavioral Outcomes in Chinese Adolescent and Young Adult Survivors of Sarcoma.

Purpose: To identify the prevalence and predictive factors of body image dissatisfaction among Chinese adolescent and young adult (AYA) survivors of sarcoma and to evaluate its associations with behavioral outcomes.

Methods: In total, 116 AYA survivors (response rate: 88%; 48.3% female; mean age 28.