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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.
New mixture models for decoy-free false discovery rate estimation in mass spectrometry proteomics.
Peng Y, Jain S, Li YF, Greguš M, Ivanov AR, Vitek O, Radivojac P.
Peng Y, et al.
Bioinformatics. 2020 Dec 30;36(Suppl_2):i745-i753. doi: 10.1093/bioinformatics/btaa807.
Bioinformatics. 2020.
PMID: 33381824
Free PMC article.
Item in Clipboard
Enumerating consistent sub-graphs of directed acyclic graphs: an insight into biomedical ontologies.
Peng Y, Jiang Y, Radivojac P.
Peng Y, et al.
Bioinformatics. 2018 Jul 1;34(13):i313-i322. doi: 10.1093/bioinformatics/bty268.
Bioinformatics. 2018.
PMID: 29949985
Free PMC article.
Item in Clipboard
Predicting the impact of rare variants on RNA splicing in CAGI6.
Lord J, Oquendo CJ, Wai HA, Douglas AGL, Bunyan DJ, Wang Y, Hu Z, Zeng Z, Danis D, Katsonis P, Williams A, Lichtarge O, Chang Y, Bagnall RD, Mount SM, Matthiasardottir B, Lin C, Hansen TVO, Leman R, Martins A, Houdayer C, Krieger S, Bakolitsa C, Peng Y, Kamandula A, Radivojac P, Baralle D.
Lord J, et al. Among authors: peng y.
Hum Genet. 2024 Jan 3. doi: 10.1007/s00439-023-02624-3. Online ahead of print.
Hum Genet. 2024.
PMID: 38170232
Free article.
Item in Clipboard
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.
Stenton SL, O'Leary MC, Lemire G, VanNoy GE, DiTroia S, Ganesh VS, Groopman E, O'Heir E, Mangilog B, Osei-Owusu I, Pais LS, Serrano J, Singer-Berk M, Weisburd B, Wilson MW, Austin-Tse C, Abdelhakim M, Althagafi A, Babbi G, Bellazzi R, Bovo S, Carta MG, Casadio R, Coenen PJ, De Paoli F, Floris M, Gajapathy M, Hoehndorf R, Jacobsen JOB, Joseph T, Kamandula A, Katsonis P, Kint C, Lichtarge O, Limongelli I, Lu Y, Magni P, Mamidi TKK, Martelli PL, Mulargia M, Nicora G, Nykamp K, Pejaver V, Peng Y, Pham THC, Podda MS, Rao A, Rizzo E, Saipradeep VG, Savojardo C, Schols P, Shen Y, Sivadasan N, Smedley D, Soru D, Srinivasan R, Sun Y, Sunderam U, Tan W, Tiwari N, Wang X, Wang Y, Williams A, Worthey EA, Yin R, You Y, Zeiberg D, Zucca S, Bakolitsa C, Brenner SE, Fullerton SM, Radivojac P, Rehm HL, O'Donnell-Luria A.
Stenton SL, et al. Among authors: peng y.
Hum Genomics. 2024 Apr 29;18(1):44. doi: 10.1186/s40246-024-00604-w.
Hum Genomics. 2024.
PMID: 38685113
Free PMC article.
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