Long read sequencing enhances pathogenic and novel variation discovery in patients with rare diseases.

With ongoing improvements in the detection of complex genomic and epigenomic variations, long-read sequencing (LRS) technologies could serve as a unified platform for clinical genetic testing, particularly in rare disease settings, where nearly half of patients remain undiagnosed using existing technologies. Here, we report a simplified funnel-down filtration strategy aimed at enhancing the identification of small and large deleterious variants as well as abnormal episignature disease profiles from whole-genome LRS data. This approach detected all pathogenic single nucleotide, structural, and methylation variants in a positive control set (N = 76) including an independent sample set with known methylation profiles (N = 57).

Differentiating Therapeutic Responses That Reduce Restrictive Practice Use and Situational Aggression in an Acute Mental Health Unit.

Aim: An analysis of mental health nursing de-escalation logs for 249 days from a regional adult inpatient unit in New South Wales, Australia, was completed to identify groups of cooccurring nursing therapeutic responses to aggression and examine their associations with reductions in restrictive practices and situational aggression.

Design: A single-centre retrospective study was undertaken.

Method: Hierarchical clustering of nursing interventions established groups of cooccurring nursing responses.

Practical resistance to spinosad in an onion maggot (Diptera: Anthomyiidae) population in New York.

Onion maggot, Delia antiqua (Meigen), is a significant constraint on onion production across the temperate regions of North America. Early season infestations can reduce plant stands up to 75% if untreated. Effective management of D.

Uptake, utility and resource requirements of a genetic counselling telephone helpline within the BRCA-DIRECT digital pathway for mainstreamed BRCA testing in patients with breast cancer.

Background: We trialled the first digital pathway (BRCA-DIRECT) aiming to improve capacity for mainstreamed BRCA testing within UK breast oncology services. Patients received standardised digital pretest information, with saliva sampling and consent to testing completed at home. For individualised support, we offered access to a clinical genetics professional via a telephone helpline (TH).

High Systemic Disease Risk and Therapeutic Delays in Plaque Psoriasis: A Retrospective Analysis of Apremilast Use in the British Association of Dermatologists Biologic and Immunomodulators Register (BADBIR).

Introduction: We describe comorbidities and cardiovascular diseases (CVD) risk in patients with psoriasis prescribed apremilast in UK clinical practice. Such real-world data are currently sparse.

Methods: This observational, retrospective analysis of British Association of Dermatologists Biologic and Immunomodulators Register (BADBIR) included adults with plaque psoriasis first prescribed apremilast between October 2015 and March 2021.