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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2022 | 1 |
2023 | 4 |
2024 | 2 |
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7 results
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Page 1
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Am J Hum Genet. 2022 Dec 1;109(12):2163-2177. doi: 10.1016/j.ajhg.2022.10.013. Epub 2022 Nov 21.
Am J Hum Genet. 2022.
PMID: 36413997
Free PMC article.
An Approach to Identifying and Quantifying Bias in Biomedical Data.
De Paolis Kaluza MC, Jain S, Radivojac P.
De Paolis Kaluza MC, et al.
Pac Symp Biocomput. 2023;28:311-322.
Pac Symp Biocomput. 2023.
PMID: 36540987
Free PMC article.
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The Impact of Genomic Variation on Function (IGVF) Consortium.
IGVF Consortium.
IGVF Consortium.
ArXiv [Preprint]. 2023 Jul 24:arXiv:2307.13708v1.
ArXiv. 2023.
PMID: 37547663
Free PMC article.
Preprint.
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Technology Platforms and Approaches for Building and Evaluating Machine Learning Methods in Healthcare.
Mooney SD.
Mooney SD.
J Appl Lab Med. 2023 Jan 4;8(1):194-202. doi: 10.1093/jalm/jfac113.
J Appl Lab Med. 2023.
PMID: 36610427
Free PMC article.
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CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods.
Critical Assessment of Genome Interpretation Consortium.
Critical Assessment of Genome Interpretation Consortium.
Genome Biol. 2024 Feb 22;25(1):53. doi: 10.1186/s13059-023-03113-6.
Genome Biol. 2024.
PMID: 38389099
Free PMC article.
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Multi-objective prioritization of genes for high-throughput functional assays towards improved clinical variant classification.
Chen Y, Jain S, Zeiberg D, Iakoucheva LM, Mooney SD, Radivojac P, Pejaver V.
Chen Y, et al.
Pac Symp Biocomput. 2023;28:323-334.
Pac Symp Biocomput. 2023.
PMID: 36540988
Free PMC article.
Item in Clipboard
Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations.
Stenton SL, Pejaver V, Bergquist T, Biesecker LG, Byrne AB, Nadeau E, Greenblatt MS, Harrison S, Tavtigian S, Radivojac P, Brenner SE, O'Donnell-Luria A.
Stenton SL, et al.
medRxiv [Preprint]. 2024 Mar 7:2024.03.05.24303807. doi: 10.1101/2024.03.05.24303807.
medRxiv. 2024.
PMID: 38496501
Free PMC article.
Preprint.
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