Matteo Massidda
YOU?
Author Swipe
View article: A Novel Affordable and Reliable Framework for Accurate Detection and Comprehensive Analysis of Somatic Mutations in Cancer
A Novel Affordable and Reliable Framework for Accurate Detection and Comprehensive Analysis of Somatic Mutations in Cancer Open
Accurate detection and analysis of somatic variants in cancer involve multiple third-party tools with complex dependencies and configurations, leading to laborious, error-prone, and time-consuming data conversions. This approach lacks accu…
View article: Esophageal Cancer with Early Onset in a Patient with Cri du Chat Syndrome
Esophageal Cancer with Early Onset in a Patient with Cri du Chat Syndrome Open
Background: In Cri du Chat (CdC), cancer as comorbidity is extremely rare. In databases from Denmark, Spain, Australia, New Zealand, and Japan, no cancer was reported; in Italy and Germany, four cancers were identified out of 321 CdCs. Met…
View article: Harnessing Minimal Residual Disease as a Predictor for Colorectal Cancer: Promising Horizons Amidst Challenges
Harnessing Minimal Residual Disease as a Predictor for Colorectal Cancer: Promising Horizons Amidst Challenges Open
Minimal Residual Disease (MRD) detection has emerged as an independent factor in clinical and pathological cancer assessment offering a highly effective method for predicting recurrence in colorectal cancer (CRC). The ongoing research init…
View article: Whole genome sequencing in ROHHAD trios proved inconclusive: what’s beyond?
Whole genome sequencing in ROHHAD trios proved inconclusive: what’s beyond? Open
Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation and Autonomic Dysregulation (ROHHAD) is a rare, life-threatening, pediatric disorder of unknown etiology, whose diagnosis is made difficult by poor knowledge of clinical ma…
View article: Next Generation Sequencing for miRNA Detection on the Exhaled Breath Condensate: A Pilot Study
Next Generation Sequencing for miRNA Detection on the Exhaled Breath Condensate: A Pilot Study Open
Introduction: Exhaled breath condensate (EBC) sampling has been suggested as a less-invasive and cost-effective method to detect biological macromolecules, including miRNA. To explore the feasibility of its use as a biomarker of early effe…
View article: VariantAlert: A web‐based tool to notify updates in genetic variant annotations
VariantAlert: A web‐based tool to notify updates in genetic variant annotations Open
The reinterpretation of variants based on updated annotations is part of the routine work of research laboratories: the more data is collected about a specific variant, the higher the probability to reinterpret its classification. To suppo…
View article: Circulating Levels of MiRNAs From 320 Family in Subjects With Lipodystrophy: Disclosing Novel Signatures of the Disease
Circulating Levels of MiRNAs From 320 Family in Subjects With Lipodystrophy: Disclosing Novel Signatures of the Disease Open
Lipodystrophy (LD) indicates a group of rare disorders, with generalized or partial loss of white adipose tissue (WAT) often associated with metabolic derangements. Heterogeneity/wide spectrum of the disease and lack of biomarkers make dia…
View article: Broad Spectrum project: factors determining the quality of antibiotic use in primary care: an observational study protocol from Italy
Broad Spectrum project: factors determining the quality of antibiotic use in primary care: an observational study protocol from Italy Open
Introduction The overuse of antibiotics is causing worldwide spread of antimicrobial resistance (AMR). Compared with other countries, Italy has both high antibiotic consumption rates and high rates of AMR. Due to the fact that around 90% o…
View article: Regorafenib-induced hypothyroidism and cancer-related fatigue: is there a potential link?
Regorafenib-induced hypothyroidism and cancer-related fatigue: is there a potential link? Open
Objective Thyroid dysfunction has been reported during Regorafenib (Reg) administration, but no detailed study is presently available. Design Prospective, observational cohort study. Patients with documented metastatic colorectal cancer an…
View article: Non-invasive prenatal diagnosis of beta-thalassemia by semiconductor sequencing: a feasibility study in the sardinian population
Non-invasive prenatal diagnosis of beta-thalassemia by semiconductor sequencing: a feasibility study in the sardinian population Open