Generating Clinical-Grade Gene-Disease Validity Classifications Through the ClinGen Data Platforms.

Clinical genetic laboratories must have access to clinically validated biomedical data for precision medicine. A lack of accessibility, normalized structure, and consistency in evaluation complicates interpretation of disease causality, resulting in confusion in assessing the clinical validity of genes and genetic variants for diagnosis. A key goal of the Clinical Genome Resource (ClinGen) is to fill the knowledge gap concerning the strength of evidence supporting the role of a gene in a monogenic disease, which is achieved through a process known as Gene-Disease Validity curation.

Reboot coaching programme: a mixed-methods evaluation assessing resilience, confidence, burnout and depression in medical students.

Background: Poor mental health in medical students is a global concern. Effective interventions are required, which are tailored towards the training-related stressors medical students experience. The Reboot coaching programme is an online, tailored intervention based on cognitive-behavioural principles.

ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines.

Background: Identification of clinically significant genetic alterations involved in human disease has been dramatically accelerated by developments in next-generation sequencing technologies. However, the infrastructure and accessible comprehensive curation tools necessary for analyzing an individual patient genome and interpreting genetic variants to inform healthcare management have been lacking.

Results: Here we present the ClinGen Variant Curation Interface (VCI), a global open-source variant classification platform for supporting the application of evidence criteria and classification of variants based on the ACMG/AMP variant classification guidelines.

Ultrasound and electrical stimulator-guided obturator nerve block with phenol in the treatment of hip adductor spasticity in long-term care patients: a randomized, triple blind, placebo controlled study.

Objective: To evaluate the effectiveness of ultrasound-guided phenol nerve block in the treatment of severe hip adductor spasticity in long-term care patients.

Methods: Double-blind placebo-controlled trial with a 9-month follow-up period.

Setting: A 250-bed long-term care hospital and the infirmary units of 5 regional hospitals.

Can botulinum toxin decrease carer burden in long term care residents with upper limb spasticity? A randomized controlled study.

Objective: To evaluate whether botulinum toxin can decrease the burden for caregivers of long term care patients with severe upper limb spasticity.

Method: This was a double-blind placebo-controlled trial with a 24-week follow-up period.

Setting: A 250-bed long term care hospital, the infirmary units of 3 regional hospitals, and 5 care and attention homes.