Machine learning‐driven diagnostic signature provides new insights in clinical management of hypertrophic cardiomyopathy
Sign Up to like & getrecommendations! Published in 2024 at "ESC Heart Failure"
DOI: 10.1002/ehf2.14762
Abstract: In an era of evolving diagnostic possibilities, existing diagnostic systems are not fully sufficient to promptly recognize patients with early‐stage hypertrophic cardiomyopathy (HCM) without symptomatic and instrumental features. Considering the sudden death of HCM, developing… read more here.
Keywords: diagnostic signature; driven diagnostic; signature provides; machine learning ... See more keywords
Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup.
Sign Up to like & getrecommendations! Published in 2022 at "Haematologica"
DOI: 10.3324/haematol.2022.280993
Abstract: Inherited thrombocytopenias (ITs) are genetic diseases characterized by low platelet count, possibly associated with congenital defects or predisposition to develop additional conditions. Next generation sequencing has consistently improved our knowledge of ITs, with >40 genes… read more here.
Keywords: 116 patients; phenotype; phenotype driven; driven diagnostic ... See more keywords