A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing.

Gemma MarinellaGuja AstreaBianca BuchignaniDenise CassandriniStefano Doccini Massimiliano MirabellaDaniele GalatoloSalvatore GalloneFabio GianniniDiego LopergoloMaria Antonietta MaioliFrancesca MagriAlessandro MalandriniPaola MandichFrancesco MariRoberto MassaSabrina MataFederico MelaniMaurizio MoggioTiziana E MonginiRosa PasquarielloElena PegoraroFederica Silvia RicciGiulia RicciCarmelo RodolicoAnna RubegniGabriele SicilianoMartina SpertiChiara TicciPaola ToninFilippo M SantorelliRoberta Battini

Published in: International journal of molecular sciences (2022)

In a real-world diagnostic scenario applied to heterogeneous neuromuscular conditions, a multistep integration of clinical and molecular data allowed the identification of about 3% of those patients harboring pathogenetic collagen VI variants.

Keyphrases

copy number
end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
risk factors
peritoneal dialysis
prognostic factors
electronic health record
patient reported outcomes
dna methylation
machine learning
big data
deep learning