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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2021 | 1 |
2022 | 1 |
2023 | 3 |
2024 | 2 |
Search Results
6 results
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Page 1
Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project.
medRxiv [Preprint]. 2023 Aug 4:2023.08.02.23293212. doi: 10.1101/2023.08.02.23293212.
medRxiv. 2023.
PMID: 37577678
Free PMC article.
Updated.
Preprint.
CAGI6 ID-Challenge: Assessment of phenotype and variant predictions in 415 children with Neurodevelopmental Disorders (NDDs).
Aspromonte MC, Conte AD, Zhu S, Tan W, Shen Y, Zhang Y, Li Q, Wang MH, Babbi G, Bovo S, Martelli PL, Casadio R, Althagafi A, Toonsi S, Kulmanov M, Hoehndorf R, Katsonis P, Williams A, Lichtarge O, Xian S, Surento W, Pejaver V, Mooney SD, Sunderam U, Srinivasan R, Murgia A, Piovesan D, Tosatto SCE, Leonardi E.
Aspromonte MC, et al.
Res Sq [Preprint]. 2023 Aug 2:rs.3.rs-3209168. doi: 10.21203/rs.3.rs-3209168/v1.
Res Sq. 2023.
PMID: 37577579
Free PMC article.
Preprint.
Item in Clipboard
A Comparison of Natural Language Processing Methods for the Classification of Lumbar Spine Imaging Findings Related to Lower Back Pain.
Jujjavarapu C, Pejaver V, Cohen TA, Mooney SD, Heagerty PJ, Jarvik JG.
Jujjavarapu C, et al.
Acad Radiol. 2022 Mar;29 Suppl 3(Suppl 3):S188-S200. doi: 10.1016/j.acra.2021.09.005. Epub 2021 Dec 1.
Acad Radiol. 2022.
PMID: 34862122
Free PMC article.
Item in Clipboard
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.
Item in Clipboard
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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