Profil bibliographique

Francesca Borg Carbott

Informations fournies par OpenAlex. Research Africa ne déduit ni nationalité, ni poste, ni coordonnées personnelles.

5Publications signalées
0Citations signalées
1Affiliations récentes

Les institutions déclarées

University of Malta

Les domaines associés

Parallel Computing and Optimization TechniquesSoftware System Performance and ReliabilityICT in Developing CommunitiesGenomics and Phylogenetic StudiesGenetic Associations and Epidemiology

Les publications récentes

Accès ouvert 2026 article OpenAlex

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)

0 citations Zenodo (CERN European Organization for Nuclear Research)
Accès ouvert 2026 article OpenAlex

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)

0 citations Zenodo (CERN European Organization for Nuclear Research)
Accès ouvert 2026 article OpenAlex

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)

0 citations Zenodo (CERN European Organization for Nuclear Research)
Accès ouvert 2021 conference-paper OpenAlex

Idiopathic hypogonadotropic hypogonadism in the Maltese island population : a spectrum of phenotypes and genotypes

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

Idiopathic Hypogonadotropic Hypogonadism (IHH) is a rare, genetically heterogeneous infertility disorder characterized by absent or incomplete sexual maturation by age 18. This is due to a deficiency or absence of either pulsatile hypothalamic secretion of gonadotropin-releasing hormone (GnRH) and/or gonadotropins from the …

0 citations OAR@UM (University of Malta)
Notice OpenAlex

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