Publication:
Performance of AlphaMissense and Other In Silico Predictors to Determine Pathogenicity of Missense Variants in Sarcomeric Genes.

Simple item page
dc.contributor.authorRuiz, Mario
dc.contributor.authorOchoa, Juan Pablo
dc.contributor.authorMigoyo-Bettoni, Candela
dc.contributor.authorde la Barrera, Jorge
dc.contributor.authorDelrio-Lorenzo, Alba
dc.contributor.authorFernández-Rojo, Manuel A
dc.contributor.authorMartinez-Martin, Ines
dc.contributor.authorAlegre-Cebollada, Jorge
dc.contributor.authorLara-Pezzi, Enrique
dc.contributor.authorSanchez-Cabo, Fatima
dc.contributor.authorGarcia-Pavia, Pablo
dc.contributor.funderInstituto de Salud Carlos III
dc.contributor.funderMinisterio de Ciencia, Innovación y Universidades
dc.contributor.funderMinisterio de Ciencia e Innovación
dc.date.accessioned2025-12-11T16:08:44Z
dc.date.available2025-12-11T16:08:44Z
dc.date.issued2025-04
dc.description.peerreviewedSí
dc.description.tableofcontentsThe Centro Nacional de Investigaciones Cardiovasculares (CNIC) is supported by the Instituto de Salud Carlos III, the Ministerio de Ciencia e Innovación, and the Pro CNIC Foundation, and is a Severo Ochoa Center of Excellence (grant CEX2020-001041-S funded by MICIN/AEI/10.13039/501100011033). Drs Garcia-Pavia and Lara-Pezzi are funded by the Pathfinder Cardiogenomics programme of the European Innovation Council of the European Union (DCM-NEXT project; project number: 101115416). Dr Alegre-Cebollada acknowledges funding from the Ministerio de Ciencia, Innovación y Universidades (MCIU, MICIU/AEI/10.13039/501100011033) through grant PID2020-120426GB-I00. Dr Sanchez-Cabo acknowledges funding from the Ministerio de Ciencia, Innovación y Universidades (MCIU, MICIU/AEI/10.13039/501100011033) and European Region Development Fund through grant PID2022-141527OB-I00.
dc.format.number(2)
dc.format.volume18
dc.identifier.citationCirc Genom Precis Med. 2025 Apr;18(2):e004922.
dc.identifier.journalCIRCULATION-GENOMIC AND PRECISION MEDICINE
dc.identifier.pubmedID40115995
dc.identifier.urihttps://hdl.handle.net/20.500.12105/27012
dc.language.isoeng
dc.publisherLIPPINCOTT WILLIAMS & WILKINS
dc.relation.isreferencedbyPubMed
dc.relation.projectIDinfo:eu-repo/grantAgreement/ES/MICIN/AEI/10.13039/50110001103
dc.relation.projectIDinfo:eu-repo/grantAgreement/ES/CEX2020-001041-S
dc.relation.projectIDinfo:eu-repo/grantAgreement/ES/PID2020-120426GB-I00
dc.relation.projectIDinfo:eu-repo/grantAgreement/ES/PID2022-141527OB-I00
dc.relation.publisherversionhttps://doi.org/10.1161/CIRCGEN.124.004922
dc.repisalud.institucionCNIC
dc.repisalud.orgCNICMiocardiopatías Hereditarias
dc.repisalud.orgCNICCNIC::Grupos de investigación::Mecánica molecular del sistema cardiovascular
dc.rights.accessRightsopen access
dc.rights.licenseAttribution-NonCommercial-NoDerivatives 4.0 International
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/
dc.subjectamino acids
dc.subjectcardiomyopathies
dc.subjectcomputational biology
dc.subjectdeep learning
dc.subjectin silico models
dc.titlePerformance of AlphaMissense and Other In Silico Predictors to Determine Pathogenicity of Missense Variants in Sarcomeric Genes.
dc.typeletter to the editor
dc.type.hasVersionAM
dspace.entity.typePublication

Files

Original bundle

Now showing 1 - 1 of 1
Thumbnail Image
Name:
Performance of AlphaMissense_Circ Genom Precis Med_2025.pdf
Size:
1.81 MB
Format:
Adobe Portable Document Format
Download

Collections

Grupos de investigación