000130809 001__ 130809
000130809 005__ 20240319081000.0
000130809 0247_ $$2doi$$a10.1016/j.jmoldx.2022.01.005
000130809 0248_ $$2sideral$$a128773
000130809 037__ $$aART-2022-128773
000130809 041__ $$aeng
000130809 100__ $$0(orcid)0000-0002-1896-7805$$aGalano-Frutos, J.$$uUniversidad de Zaragoza
000130809 245__ $$aPirePred: an accurate online consensus tool to interpret newborn screening–related genetic variants in structural context
000130809 260__ $$c2022
000130809 5060_ $$aAccess copy available to the general public$$fUnrestricted
000130809 5203_ $$aPirePred is a genetic interpretation tool used for a variety of medical conditions investigated in newborn screening programs. The PirePred server retrieves, analyzes, and displays in real time genetic and structural data on 58 genes/proteins associated with medical conditions frequently investigated in the newborn. PirePred analyzes the predictions generated by 15 pathogenicity predictors and applies an optimized majority vote algorithm to classify any possible nonsynonymous single-nucleotide variant as pathogenic, benign, or of uncertain significance. PirePred predictions for variants of clear clinical significance are better than those of any of the individual predictors considered (based on accuracy, sensitivity, and negative predictive value) or are among the best ones (for positive predictive value and Matthews correlation coefficient). PirePred predictions also outperform the comparable in silico predictions offered as supporting evidence, according to American College of Medical Genetics and Genomics guidelines, by VarSome and Franklin. Also, PirePred has very high prediction coverage. To facilitate the molecular interpretation of the missense, nonsense, and frameshift variants in ClinVar, the changing amino acid residue is displayed in its structural context, which is analyzed to provide functional clues. PirePred is an accurate, robust, and easy-to-use tool for clinicians involved in neonatal screening programs and for researchers of related diseases. The server is freely accessible and provides a user-friendly gateway into the structural/functional consequences of genetic variants at the protein level. © 2022 Association for Molecular Pathology and American Society for Investigative Pathology
000130809 536__ $$9info:eu-repo/grantAgreement/ES/DGA/E45-17R$$9info:eu-repo/grantAgreement/ES/DGA/LMP30-18$$9info:eu-repo/grantAgreement/EUR/INTERREG-POCTEFA/PIREPRED-EFA086/15$$9info:eu-repo/grantAgreement/ES/MICINN/FPU16-04232$$9info:eu-repo/grantAgreement/ES/MINECO/PID2019- 107293GB-I00
000130809 540__ $$9info:eu-repo/semantics/openAccess$$aby-nc-nd$$uhttp://creativecommons.org/licenses/by-nc-nd/3.0/es/
000130809 590__ $$a4.1$$b2022
000130809 591__ $$aPATHOLOGY$$b21 / 76 = 0.276$$c2022$$dQ2$$eT1
000130809 592__ $$a1.245$$b2022
000130809 593__ $$aPathology and Forensic Medicine$$c2022$$dQ1
000130809 593__ $$aMolecular Medicine$$c2022$$dQ2
000130809 594__ $$a7.2$$b2022
000130809 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/acceptedVersion
000130809 700__ $$0(orcid)0000-0002-9590-7371$$aGarcía-Cebollada, H.$$uUniversidad de Zaragoza
000130809 700__ $$aLópez, A.
000130809 700__ $$aRosell, M.
000130809 700__ $$ade la Cruz, X.
000130809 700__ $$aFernández-Recio, J.
000130809 700__ $$0(orcid)0000-0002-2879-9200$$aSancho, J.$$uUniversidad de Zaragoza
000130809 7102_ $$11002$$2060$$aUniversidad de Zaragoza$$bDpto. Bioq.Biolog.Mol. Celular$$cÁrea Bioquímica y Biolog.Mole.
000130809 773__ $$g24, 4 (2022), 406-425$$pJ. mol. diagnostics$$tJOURNAL OF MOLECULAR DIAGNOSTICS$$x1525-1578
000130809 8564_ $$s4229440$$uhttps://zaguan.unizar.es/record/130809/files/texto_completo.pdf$$yPostprint
000130809 8564_ $$s2850878$$uhttps://zaguan.unizar.es/record/130809/files/texto_completo.jpg?subformat=icon$$xicon$$yPostprint
000130809 909CO $$ooai:zaguan.unizar.es:130809$$particulos$$pdriver
000130809 951__ $$a2024-03-18-14:05:50
000130809 980__ $$aARTICLE