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.

-specific machine learning model predicts variant pathogenicity with high accuracy.

Identification of novel variants outpaces their clinical annotation which highlights the importance of developing accurate computational methods for risk assessment. Therefore our aim was to develop a -specific machine learning model to predict the pathogenicity of all types of variants and to apply this model and our previous specific model to assess variants of uncertain significance (VUS) among Qatari patients with breast cancer. We developed an XGBoost model that utilizes variant information such as position frequency and consequence as well as prediction scores from numerous in silico tools.

Essential Oils Extracted from Oleo Gum Resin Loaded into PLGA-PCL Nanoparticles: Enhanced Cytotoxic and Apoptotic Effects against Breast Cancer Cells.

This work aims to develop and optimize blended polylactide--glycolide (PLGA) and poly(ε-caprolactone, PCL) loaded with oil (BO) to improve BO's physicochemical properties and anti-breast cancer effects enhancing apoptosis. In this context, BO was extracted from oleo gum resins (BO) hydrodistillation and chemically characterized by evaluating its essential oil's composition using gas chromatography-mass spectrometry. Then, BO/PLGA-PCL NPs were formulated using the emulsion (O/W) solvent evaporation technique using a PLGA-PCL mixture at five different ratios (1:1, 2:1, 3:1, 1:2, and 1:3, respectively).

Prevalence and Genotype-Phenotype Correlation of Lynch Syndrome in a Selected High-Risk Cohort from Qatar's Population.

Lynch syndrome (LS) is the most common cause of hereditary colorectal cancers (CRC) and is associated with an increased risk for ovarian and endometrial cancers. There is lack of knowledge on the epidemiology of LS in the non-Caucasian populations especially in Qatar. The aim of this retrospective study is to explore the prevalence of LS in a selected high-risk cohort in the State of Qatar in addition to investigating the frequency and genotype-phenotype correlation associated with mismatch repair genes pathogenic variants.

Adherence to the Mediterranean Diet and Its Association With Sleep Quality and Chronotype Among Youth: A Cross-Sectional Study.

Background: Evidence indicates that many university students have poor adherence to a healthy diet accompanied by unhealthy lifestyle behaviors. Chrono-nutrition is an emerging field of research that examines the pattern of optimum daily activity in relation to the human's dietary patterns, and their reflections of variable health indicators such as sleep quality. However, there is a scarcity of research that examines the relationship between adherence to the healthy eating pattern, like the Mediterranean diet (MD), with sleep quality and chronotype among university students.