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Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project.
Stenton SL, O'Leary M, 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 M, 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: srinivasan r. medRxiv [Preprint]. 2023 Aug 4:2023.08.02.23293212. doi: 10.1101/2023.08.02.23293212. medRxiv. 2023. PMID: 37577678 Free PMC article. Preprint.
TPX: Biomedical literature search made easy.
Joseph T, Saipradeep VG, Raghavan GS, Srinivasan R, Rao A, Kotte S, Sivadasan N. Joseph T, et al. Among authors: srinivasan r. Bioinformation. 2012;8(12):578-80. doi: 10.6026/97320630008578. Epub 2012 Jun 28. Bioinformation. 2012. PMID: 22829734 Free PMC article.
Sequence Alignment on Directed Graphs.
Kavya VNS, Tayal K, Srinivasan R, Sivadasan N. Kavya VNS, et al. Among authors: srinivasan r. J Comput Biol. 2019 Jan;26(1):53-67. doi: 10.1089/cmb.2017.0264. Epub 2018 Sep 8. J Comput Biol. 2019. PMID: 30204489
PRIORI-T: A tool for rare disease gene prioritization using MEDLINE.
Rao A, Joseph T, Saipradeep VG, Kotte S, Sivadasan N, Srinivasan R. Rao A, et al. Among authors: srinivasan r. PLoS One. 2020 Apr 21;15(4):e0231728. doi: 10.1371/journal.pone.0231728. eCollection 2020. PLoS One. 2020. PMID: 32315351 Free PMC article.
Benchmarked approaches for reconstruction of in vitro cell lineages and in silico models of C. elegans and M. musculus developmental trees.
Gong W, Granados AA, Hu J, Jones MG, Raz O, Salvador-Martínez I, Zhang H, Chow KK, Kwak IY, Retkute R, Prusokiene A, Prusokas A, Khodaverdian A, Zhang R, Rao S, Wang R, Rennert P, Saipradeep VG, Sivadasan N, Rao A, Joseph T, Srinivasan R, Peng J, Han L, Shang X, Garry DJ, Yu T, Chung V, Mason M, Liu Z, Guan Y, Yosef N, Shendure J, Telford MJ, Shapiro E, Elowitz MB, Meyer P. Gong W, et al. Among authors: srinivasan r. Cell Syst. 2021 Aug 18;12(8):810-826.e4. doi: 10.1016/j.cels.2021.05.008. Epub 2021 Jun 18. Cell Syst. 2021. PMID: 34146472 Free article.
1,782 results