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dc.contributor.author
Jain, Shantanu
dc.contributor.author
Bakolitsa, Constantina
dc.contributor.author
Brenner, Steven E.
dc.contributor.author
Radivojac, Predrag
dc.contributor.author
Moult, John
dc.contributor.author
Repo, Susanna
dc.contributor.author
Hoskins, Roger A.
dc.contributor.author
Andreoletti, Gaia
dc.contributor.author
Barsky, Daniel
dc.contributor.author
Chellapan, Ajithavalli
dc.contributor.author
Chu, Hoyin
dc.contributor.author
Dabbiru, Navya
dc.contributor.author
Kollipara, Naveen K.
dc.contributor.author
Ly, Melissa
dc.contributor.author
Neumann, Andrew J.
dc.contributor.author
Pal, Lipika R.
dc.contributor.author
Odell, Eric
dc.contributor.author
Pandey, Gaurav
dc.contributor.author
Peters Petrulewicz, Robin C.
dc.contributor.author
Srinivasan, Rajgopal
dc.contributor.author
Yee, Stephen F.
dc.contributor.author
Yeleswarapu, Sri Jyothsna
dc.contributor.author
Zuhl, Maya
dc.contributor.author
Adebali, Ogun
dc.contributor.author
Fornasari, Maria Silvina
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dc.contributor.author
Patra, Ayoti
dc.contributor.author
O'Donnell Luria, Anne
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Ng, Pauline C.
dc.contributor.author
Shon, John
dc.contributor.author
Veltman, Joris
dc.contributor.author
Zook, Justin M.
dc.date.available
2024-07-16T12:13:25Z
dc.date.issued
2024-02
dc.identifier.citation
Jain, Shantanu; Bakolitsa, Constantina; Brenner, Steven E.; Radivojac, Predrag; Moult, John; et al.; CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods; BioMed Central; Genome Biology; 25; 1; 2-2024; 1-46
dc.identifier.issn
1474-760X
dc.identifier.uri
http://hdl.handle.net/11336/240041
dc.description.abstract
Background The Critical Assessment of Genome Interpretation (CAGI) aims to advance the state-of-the-art for computational prediction of genetic variant impact, particularly where relevant to disease. The five complete editions of the CAGI community experiment comprised 50 challenges, in which participants made blind predictions of phenotypes from genetic data, and these were evaluated by independent assessors. Results Performance was particularly strong for clinical pathogenic variants, including some difficult-to-diagnose cases, and extends to interpretation of cancer-related variants. Missense variant interpretation methods were able to estimate biochemical effects with increasing accuracy. Assessment of methods for regulatory variants and complex trait disease risk was less definitive and indicates performance potentially suitable for auxiliary use in the clinic. Conclusions Results show that while current methods are imperfect, they have major utility for research and clinical applications. Emerging methods and increasingly large, robust datasets for training and assessment promise further progress ahead.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
BioMed Central
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dc.rights
info:eu-repo/semantics/openAccess
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.subject
Variant impact
dc.subject
Disease
dc.subject
Computational Biology
dc.subject.classification
Otras Ciencias Biológicas
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dc.subject.classification
Ciencias Biológicas
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dc.subject.classification
CIENCIAS NATURALES Y EXACTAS
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dc.title
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2024-07-01T10:09:35Z
dc.journal.volume
25
dc.journal.number
1
dc.journal.pagination
1-46
dc.journal.pais
Reino Unido
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dc.journal.ciudad
Londres
dc.description.fil
Fil: Jain, Shantanu. No especifíca;
dc.description.fil
Fil: Bakolitsa, Constantina. No especifíca;
dc.description.fil
Fil: Brenner, Steven E.. No especifíca;
dc.description.fil
Fil: Radivojac, Predrag. No especifíca;
dc.description.fil
Fil: Moult, John. No especifíca;
dc.description.fil
Fil: Repo, Susanna. No especifíca;
dc.description.fil
Fil: Hoskins, Roger A.. No especifíca;
dc.description.fil
Fil: Andreoletti, Gaia. No especifíca;
dc.description.fil
Fil: Barsky, Daniel. No especifíca;
dc.description.fil
Fil: Chellapan, Ajithavalli. No especifíca;
dc.description.fil
Fil: Chu, Hoyin. No especifíca;
dc.description.fil
Fil: Dabbiru, Navya. No especifíca;
dc.description.fil
Fil: Kollipara, Naveen K.. No especifíca;
dc.description.fil
Fil: Ly, Melissa. No especifíca;
dc.description.fil
Fil: Neumann, Andrew J.. No especifíca;
dc.description.fil
Fil: Pal, Lipika R.. No especifíca;
dc.description.fil
Fil: Odell, Eric. No especifíca;
dc.description.fil
Fil: Pandey, Gaurav. No especifíca;
dc.description.fil
Fil: Peters Petrulewicz, Robin C.. No especifíca;
dc.description.fil
Fil: Srinivasan, Rajgopal. No especifíca;
dc.description.fil
Fil: Yee, Stephen F.. No especifíca;
dc.description.fil
Fil: Yeleswarapu, Sri Jyothsna. No especifíca;
dc.description.fil
Fil: Zuhl, Maya. No especifíca;
dc.description.fil
Fil: Adebali, Ogun. No especifíca;
dc.description.fil
Fil: Fornasari, Maria Silvina. Universidad Nacional de Quilmes; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
dc.description.fil
Fil: Patra, Ayoti. No especifíca;
dc.description.fil
Fil: O'Donnell Luria, Anne. No especifíca;
dc.description.fil
Fil: Ng, Pauline C.. No especifíca;
dc.description.fil
Fil: Shon, John. No especifíca;
dc.description.fil
Fil: Veltman, Joris. No especifíca;
dc.description.fil
Fil: Zook, Justin M.. No especifíca;
dc.journal.title
Genome Biology
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dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1186/s13059-023-03113-6
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://genomebiology.biomedcentral.com/articles/10.1186/s13059-023-03113-6
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