IMEX   05356
INSTITUTO DE MEDICINA EXPERIMENTAL
Unidad Ejecutora - UE
congresos y reuniones científicas
Título:
Correlation between Phenotype-genotype versus in-silico Prediction of Novel and Known Disease-causing Variants in Upshaw-Schulman Syndrome Patients in a Single Institution of Argentina.
Autor/es:
KINEN A; PAIVA J; CASINELLI MM;; WOODS AI;; SÁNCHEZ-LUCEROS
Lugar:
Milan
Reunión:
Congreso; Congreso Internacional; 2020
Resumen:
Using variants of known pathogenicity, we assessed a variety of predictive algorithms in ADAMTS13. Optimum predictions were found by different tools in all nonsense and splicing sites DCV, and in most of missense and frameshift DCV. A good relationship between phenotype-genotype versus in-silico prediction was achieved. In the context of individual DCV, the alignment quality and score are important in achieving more accurate predictions of pathogenicity. These methods demonstrated themselves to be useful; however, in a punctual case they were not comparable with each possibility due to the difference in information and algorithms they used for predicting deleteriousness.