Rosienne C. Farrugia

ParaDISM

Dimosthenis Tzimotoudis, Michał Aleksander Ciach, Panagiotis Alexiou, Rosienne C. Farrugia et autres

This record contains analysis and run outputs supporting the ParaDISM manuscript. The files include PKD1/PKD1P simulation and GIAB outputs, GNAQ/GNAQP1 analyses, multi-gene simulations and GIAB evaluations, sequencing-error and anchor-threshold analyses, iterative-refinement checks, runtime measurements, and MAPQ and coverage sensitivity analyses. See README.md …

mt, pl (code pays fourni par la source)

ParaDISM

Dimosthenis Tzimotoudis, Michał Aleksander Ciach, Panagiotis Alexiou, Rosienne C. Farrugia et autres

This record contains analysis and run outputs supporting the ParaDISM manuscript. The files include PKD1/PKD1P simulation and GIAB outputs, GNAQ/GNAQP1 analyses, multi-gene simulations and GIAB evaluations, sequencing-error and anchor-threshold analyses, iterative-refinement checks, runtime measurements, and MAPQ and coverage sensitivity analyses. See README.md …

mt, pl (code pays fourni par la source)

ParaDISM

Dimosthenis Tzimotoudis, Michał Aleksander Ciach, Panagiotis Alexiou, Rosienne C. Farrugia et autres

This repository contains analysis and run outputs for the ParaDISM paper. Contents: GIAB benchmark ParaDISM outputs and variant calls GNAQ analysis ParaDISM outputs and variant calls. PKD1 Simulation aggragated outputs.

mt, pl (code pays fourni par la source)

Relevance of pre-analytical factors in multiomics: Toward a standardized blood processing protocol

Fábio Trindade, Miron Sopić, Michael J. Davies, Christos Tsatsanis et autres

To implement multiomic studies successfully, there is a need to overcome challenges in steps ranging from study design to data integration. As blood is the preferred matrix for sampling in such studies, we review how pre-analytical factors affect genomics, transcriptomics, proteomics, and …

the high-impact use case of atherosclerotic cardiovascular disease

Stephanie Bezzina Wettinger, Kanita Karađuzović-Hadžiabdić, R. Attard, Rosienne C. Farrugia et autres

Despite striking successes in identifying novel biomarkers for improved patient stratification and predicting disease progression, numerous challenges remain in the effective integration and exploitation of multiomic data in biomedical applications beyond cancer, for which most bioinformatics strategies are developed and validated. That …

Bottlenecks in advancing and applying multiomic data integration—common data resources as rate-limiting drivers—the high-impact use case of atherosclerotic cardiovascular disease

Stephanie Bezzina Wettinger, Kanita Karađuzović-Hadžiabdić, R. Attard, Rosienne C. Farrugia et autres

Despite striking successes in identifying novel biomarkers for improved patient stratification and predicting disease progression, numerous challenges remain in the effective integration and exploitation of multiomic data in biomedical applications beyond cancer, for which most bioinformatics strategies are developed and validated. That …

mt, ba, no, it, es, pt, at, be, lv, gr, rs, cz, lu, pl (code pays fourni par la source)

Epitranscriptomics in atherosclerosis: Unraveling RNA modifications, editing and splicing and their implications in vascular disease

Victoria Stopa, Dimitra Dafou, Korina Karagianni, Anne Yaël Nossent et autres

Atherosclerosis remains a leading cause of morbidity and mortality worldwide, driven by complex molecular mechanisms involving gene regulation and post-transcriptional processes. Emerging evidence highlights the critical role of epitranscriptomics, the study of chemical modifications occurring on RNA molecules, in atherosclerosis development. Epitranscriptomics …

lu, gr, dk, mt (code pays fourni par la source)

Isolating high-quality RNA for RNA-Seq from 10-year-old blood samples

C Portelli, Elisa Seria, R. Attard, Mitra Barzine et autres

There is much interest in analysing RNA, particularly with RNA Sequencing, across both research and diagnostic domains. However, its inherent instability renders it susceptible to degradation. Given the imperative for RNA integrity in such applications, proper storage and biobanking of blood samples …

mt (code pays fourni par la source)

High Population Frequency of GNRHR p.Q106R in Malta: An Evaluation of Fertility and Hormone Profiles in Heterozygotes

Clayton John Axiak, Adrian Pleven, R. Attard, Francesca Borg Carbott et autres

Abstract Context The gonadotropin-releasing hormone receptor variant GNRHR p.Q106R (rs104893836) in homozygosity, compound heterozygosity, or single heterozygosity is often reported as the causative variant in idiopathic hypogonadotropic hypogonadism (IHH) patients with GnRH deficiency. Genotyping of a Maltese newborn cord-blood collection yielded a …

mt (code pays fourni par la source)

Noncoding RNAs in age-related cardiovascular diseases

Amela Jusić, Pınar Buket Thomas, Stephanie Bezzina Wettinger, Soner Doğan et autres

lu, tr, mt, it, fr, us, gb (code pays fourni par la source)

Personality and Vocational Interests of Gifted Adolescents

Rosienne C. Farrugia, Lara Said

mt (code pays fourni par la source)

Teachers’ Pedagogy on the Creative-Thinking Preferences of Gifted Children, Influence of

Lara Said, Rosienne C. Farrugia

mt (code pays fourni par la source)