The May Measurement Month (MMM) campaign was conducted in Egypt in 2023 to raise awareness of raised blood pressure (BP). Adults aged ≥18 years were recruited through convenience sampling at hospitals, workplaces, and public areas across Egypt. Three seated BP readings were taken on each participant, and a questionnaire collected information on demographics, lifestyle factors, and comorbidities. Hypertension was defined as a systolic BP ≥140mmHg or diastolic BP ≥90mmHg or being on BP-lowering medication. Controlled BP was defined as being on BP-lowering medication with a BP <140/90mmHg. Multiple imputation was used to estimate missing BP readings. In total, 2,701 were screened, with a mean age of 41.9 years and 44.5% were female. Of all participants, 661 (24.5%) had hypertension, of whom 452 (68.4%) were aware, and 431 (65.2%) were on antihypertensive medication. Of those on antihypertensive medication, 290 (67.3%) had controlled BP, and of all participants with hypertension, 43.9% had controlled BP. Females had a higher prevalence of hypertension (27.3% vs 22.2%), awareness (75.9% vs 61.0%) and controlled BP (50.6% vs 37.2%) than males.
The MMM campaign in Egypt identified a substantial number of participants with untreated or inadequately treated hypertension, underscoring a high burden and persistent gaps in detection and management. These findings highlight the need for public education, clinical management, and community-centric screening and interventions to improve BP control and reduce cardiovascular risk.
Marina Sous, Farah Bishay, Esraa Magdy et al.· European Heart Journal, Supp...· 0 citations
Gene panels represent a widely used strategy for genetic testing in a vast range of Mendelian disorders. While this approach aids reliable bioinformatic detection of short coding variants, it often fails to detect many larger variants. Recent studies have recommended the adoption of pangenome references (as opposed to linear reference genomes like GRCh38) to augment detection of large variants from targeted sequencing, potentially providing diagnostic laboratories with the possibility to streamline diagnostic work-ups and reduce costs.
Here, we analyze 1969 cardiomyopathy cases and 1805 controls sequenced with the Illumina Trusight Cardio panel using a pangenome-based workflow (GRAF) and five conventional orthogonal methodologies (GATK HaplotypeCaller, GATK-gCNV, ExomeDepth, Manta and Lumpy-SV) to detect variants ≥ 20 bp in size.
Following lab-based variant validation by means of PCR and Sanger sequencing, we show that GRAF conjugates higher precision and recall (F1 score 0.86) compared with other methods (F1 0-0.57) in detecting potentially pathogenic variants ≥ 20 bp from short-read panel data. Results were complemented by a comparison of the tools’ performance in detecting ground truth variants on reference sample HG002 from Genome In A Bottle, which confirmed GRAF to outperform other tools also on exome sequencing (F1 0.97 vs. 0-0.94). Notably, in the HG002 benchmark dataset, GRAF also showed slightly improved performance compared to GATK HaplotypeCaller in the identification of small variants (1–19 bp; F1 0.975 vs. 0.968).
Our results indicate that pangenome-based workflows aid improved detection of large variants from targeted sequencing data in the clinical context and suggest that they may contribute to more unified variant detection frameworks for all-size genetic variants in the future.
F. Mazzarotto, Özem Kalay, E. Arslan et al.· Genome Medicine· 0 citations