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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: sivadasan n. Hum Genomics. 2024 Apr 29;18(1):44. doi: 10.1186/s40246-024-00604-w. Hum Genomics. 2024. PMID: 38685113 Free PMC article.
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: sivadasan n. medRxiv [Preprint]. 2023 Aug 4:2023.08.02.23293212. doi: 10.1101/2023.08.02.23293212. medRxiv. 2023. Update in: Hum Genomics. 2024 Apr 29;18(1):44. doi: 10.1186/s40246-024-00604-w. PMID: 37577678 Free PMC article. Updated. Preprint.
Multi-label classification for biomedical literature: an overview of the BioCreative VII LitCovid Track for COVID-19 literature topic annotations.
Chen Q, Allot A, Leaman R, Islamaj R, Du J, Fang L, Wang K, Xu S, Zhang Y, Bagherzadeh P, Bergler S, Bhatnagar A, Bhavsar N, Chang YC, Lin SJ, Tang W, Zhang H, Tavchioski I, Pollak S, Tian S, Zhang J, Otmakhova Y, Yepes AJ, Dong H, Wu H, Dufour R, Labrak Y, Chatterjee N, Tandon K, Laleye FAA, Rakotoson L, Chersoni E, Gu J, Friedrich A, Pujari SC, Chizhikova M, Sivadasan N, Vg S, Lu Z. Chen Q, et al. Among authors: sivadasan n. Database (Oxford). 2022 Aug 31;2022:baac069. doi: 10.1093/database/baac069. Database (Oxford). 2022. PMID: 36043400 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: sivadasan n. 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.
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: sivadasan n. PLoS One. 2020 Apr 21;15(4):e0231728. doi: 10.1371/journal.pone.0231728. eCollection 2020. PLoS One. 2020. PMID: 32315351 Free PMC article.
CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases.
Kasak L, Hunter JM, Udani R, Bakolitsa C, Hu Z, Adhikari AN, Babbi G, Casadio R, Gough J, Guerrero RF, Jiang Y, Joseph T, Katsonis P, Kotte S, Kundu K, Lichtarge O, Martelli PL, Mooney SD, Moult J, Pal LR, Poitras J, Radivojac P, Rao A, Sivadasan N, Sunderam U, Saipradeep VG, Yin Y, Zaucha J, Brenner SE, Meyn MS. Kasak L, et al. Among authors: sivadasan n. Hum Mutat. 2019 Sep;40(9):1373-1391. doi: 10.1002/humu.23874. Epub 2019 Sep 3. Hum Mutat. 2019. PMID: 31322791 Free PMC article.
Sequence Alignment on Directed Graphs.
Kavya VNS, Tayal K, Srinivasan R, Sivadasan N. Kavya VNS, et al. Among authors: sivadasan n. 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
11 results