Copy-number variants in the ACMG secondary finding genes: A reporting framework for clinical cytogeneticists.

Purpose: To determine the pathogenicity and frequency of copy-number variants (CNV) in the 81 secondary finding (SFv3.2) genes recommended by the American College of Medical Genetics and Genomics (ACMG).

Methods: Review of published evidence on pathogenicity of partial or complete copy-number losses or gains in ACMG SFv3.

Leveraging diverse genomic data to guide equitable carrier screening: Insights from gnomAD v.4.1.0.

Analysis of exome data from the latest release of the Genome Aggregation Database (gnomAD v.4.1.

Exploring sustainable livelihood options for COVID-impacted rural communities in Bangladesh.

The COVID pandemic paralyzed all economy-generating sectors of Bangladesh, putting abrupt pressure on livelihood-making. In this study, two sequential surveys were conducted in the Mymensingh district of Bangladesh to gain a deep understanding of the impacts of COVID on job status and post-COVID job preference. The effectiveness of preferred occupations in livelihood resilience within the Sustainable Livelihood Approach (SLA) framework was also empirically analyzed and people-driven policies were recommended for sustaining livelihoods.

doubles the number of metabolite and exposome annotations in human plasma using an Orbitrap Astral mass spectrometer.

Chemical exposures may impact human metabolism and contribute to the etiology of neurodegenerative disorders like Alzheimer's Disease (AD). Identifying these small metabolites involves matching experimental spectra to reference spectra in databases. However, environmental chemicals or physiologically active metabolites are usually present at low concentrations in human specimens.

First evaluation and detection of ivermectin resistance in gastrointestinal nematodes of sheep and goats in South Darfur, Sudan.

In Sudan, resistance to benzimidazoles has been reported recently in cattle and goats from South Darfur. Herein, ivermectin efficacy against gastrointestinal nematodes (GINs) was evaluated in sheep and goats in three study areas in South Darfur. The faecal egg count reduction test (FECRT) was used to evaluate the efficacy of ivermectin in sheep and goats naturally infected with GINs in the region of Bulbul (goats: n = 106), Kass (goats: n = 40) and Nyala (Domaia (sheep: n = 47, goats: n = 77) and the University farm (goats: n = 52)), using different treatment plans, and the efficacy was evaluated 12 days after treatment.