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Page 1
PrecisionFDA Truth Challenge V2: Calling variants from short and long reads in difficult-to-map regions.
Olson ND, Wagner J, McDaniel J, Stephens SH, Westreich ST, Prasanna AG, Johanson E, Boja E, Maier EJ, Serang O, Jáspez D, Lorenzo-Salazar JM, Muñoz-Barrera A, Rubio-Rodríguez LA, Flores C, Kyriakidis K, Malousi A, Shafin K, Pesout T, Jain M, Paten B, Chang PC, Kolesnikov A, Nattestad M, Baid G, Goel S, Yang H, Carroll A, Eveleigh R, Bourgey M, Bourque G, Li G, Ma C, Tang L, Du Y, Zhang S, Morata J, Tonda R, Parra G, Trotta JR, Brueffer C, Demirkaya-Budak S, Kabakci-Zorlu D, Turgut D, Kalay Ö, Budak G, Narcı K, Arslan E, Brown R, Johnson IJ, Dolgoborodov A, Semenyuk V, Jain A, Tetikol HS, Jain V, Ruehle M, Lajoie B, Roddey C, Catreux S, Mehio R, Ahsan MU, Liu Q, Wang K, Sahraeian SME, Fang LT, Mohiyuddin M, Hung C, Jain C, Feng H, Li Z, Chen L, Sedlazeck FJ, Zook JM. Olson ND, et al. Among authors: eveleigh r. Cell Genom. 2022 May 11;2(5):100129. doi: 10.1016/j.xgen.2022.100129. Epub 2022 Apr 27. Cell Genom. 2022. PMID: 35720974 Free PMC article.
GenPipes: an open-source framework for distributed and scalable genomic analyses.
Bourgey M, Dali R, Eveleigh R, Chen KC, Letourneau L, Fillon J, Michaud M, Caron M, Sandoval J, Lefebvre F, Leveque G, Mercier E, Bujold D, Marquis P, Van PT, Anderson de Lima Morais D, Tremblay J, Shao X, Henrion E, Gonzalez E, Quirion PO, Caron B, Bourque G. Bourgey M, et al. Among authors: eveleigh r. Gigascience. 2019 Jun 1;8(6):giz037. doi: 10.1093/gigascience/giz037. Gigascience. 2019. PMID: 31185495 Free PMC article.
[No title available]
[No authors listed] [No authors listed] PMID: 38170871
A replication study for association of 53 single nucleotide polymorphisms in ScoliScore test with adolescent idiopathic scoliosis in French-Canadian population.
Tang QL, Julien C, Eveleigh R, Bourque G, Franco A, Labelle H, Grimard G, Parent S, Ouellet J, Mac-Thiong JM, Gorman KF, Moreau A. Tang QL, et al. Among authors: eveleigh r. Spine (Phila Pa 1976). 2015 Apr 15;40(8):537-43. doi: 10.1097/BRS.0000000000000807. Spine (Phila Pa 1976). 2015. PMID: 25646748
Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot.
Page DJ, Miossec MJ, Williams SG, Monaghan RM, Fotiou E, Cordell HJ, Sutcliffe L, Topf A, Bourgey M, Bourque G, Eveleigh R, Dunwoodie SL, Winlaw DS, Bhattacharya S, Breckpot J, Devriendt K, Gewillig M, Brook JD, Setchfield KJ, Bu'Lock FA, O'Sullivan J, Stuart G, Bezzina CR, Mulder BJM, Postma AV, Bentham JR, Baron M, Bhaskar SS, Black GC, Newman WG, Hentges KE, Lathrop GM, Santibanez-Koref M, Keavney BD. Page DJ, et al. Among authors: eveleigh r. Circ Res. 2019 Feb 15;124(4):553-563. doi: 10.1161/CIRCRESAHA.118.313250. Circ Res. 2019. PMID: 30582441 Free PMC article.
A cost-effective sequencing method for genetic studies combining high-depth whole exome and low-depth whole genome.
Bhérer C, Eveleigh R, Trajanoska K, St-Cyr J, Paccard A, Nadukkalam Ravindran P, Caron E, Bader Asbah N, McClelland P, Wei C, Baumgartner I, Schindewolf M, Döring Y, Perley D, Lefebvre F, Lepage P, Bourgey M, Bourque G, Ragoussis J, Mooser V, Taliun D. Bhérer C, et al. Among authors: eveleigh r. NPJ Genom Med. 2024 Feb 7;9(1):8. doi: 10.1038/s41525-024-00390-3. NPJ Genom Med. 2024. PMID: 38326393 Free PMC article.
43 results