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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: bourgey m. 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.
RNA-Seq as a Tool to Study the Tumor Microenvironment.
Panichnantakul P, Bourgey M, Montpetit A, Bourque G, Riazalhosseini Y. Panichnantakul P, et al. Among authors: bourgey m. Methods Mol Biol. 2016;1458:311-37. doi: 10.1007/978-1-4939-3801-8_22. Methods Mol Biol. 2016. PMID: 27581031
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. Gigascience. 2019 Jun 1;8(6):giz037. doi: 10.1093/gigascience/giz037. Gigascience. 2019. PMID: 31185495 Free PMC article.
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: bourgey m. 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: bourgey m. 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.
Single-cell RNA-seq reveals that glioblastoma recapitulates a normal neurodevelopmental hierarchy.
Couturier CP, Ayyadhury S, Le PU, Nadaf J, Monlong J, Riva G, Allache R, Baig S, Yan X, Bourgey M, Lee C, Wang YCD, Wee Yong V, Guiot MC, Najafabadi H, Misic B, Antel J, Bourque G, Ragoussis J, Petrecca K. Couturier CP, et al. Among authors: bourgey m. Nat Commun. 2020 Jul 8;11(1):3406. doi: 10.1038/s41467-020-17186-5. Nat Commun. 2020. PMID: 32641768 Free PMC article.
Author Correction: Single-cell RNA-seq reveals that glioblastoma recapitulates a normal neurodevelopmental hierarchy.
Couturier CP, Ayyadhury S, Le PU, Nadaf J, Monlong J, Riva G, Allache R, Baig S, Yan X, Bourgey M, Lee C, Wang YCD, Yong VW, Guiot MC, Najafabadi H, Misic B, Antel J, Bourque G, Ragoussis J, Petrecca K. Couturier CP, et al. Among authors: bourgey m. Nat Commun. 2020 Aug 7;11(1):4041. doi: 10.1038/s41467-020-17979-8. Nat Commun. 2020. PMID: 32769982 Free PMC article.
A Distributed Whole Genome Sequencing Benchmark Study.
Corbett RD, Eveleigh R, Whitney J, Barai N, Bourgey M, Chuah E, Johnson J, Moore RA, Moradin N, Mungall KL, Pereira S, Reuter MS, Thiruvahindrapuram B, Wintle RF, Ragoussis J, Strug LJ, Herbrick JA, Aziz N, Jones SJM, Lathrop M, Scherer SW, Staffa A, Mungall AJ. Corbett RD, et al. Among authors: bourgey m. Front Genet. 2020 Dec 1;11:612515. doi: 10.3389/fgene.2020.612515. eCollection 2020. Front Genet. 2020. PMID: 33335541 Free PMC article.
46 results