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A new 165-SNP low-density lipoprotein cholesterol polygenic risk score based on next generation sequencing outperforms previously published scores in routine diagnostics of familial hypercholesterolemia.
Vanhoye X, Bardel C, Rimbert A, Moulin P, Rollat-Farnier PA, Muntaner M, Marmontel O, Dumont S, Charrière S, Cornélis F, Ducluzeau PH, Fonteille A, Nobecourt E, Peretti N, Schillo F, Wargny M, Cariou B, Meirhaeghe A, Di Filippo M. Vanhoye X, et al. Among authors: bardel c. Transl Res. 2023 May;255:119-127. doi: 10.1016/j.trsl.2022.12.002. Epub 2022 Dec 15. Transl Res. 2023. PMID: 36528340
Data mining, neural nets, trees--problems 2 and 3 of Genetic Analysis Workshop 15.
Ziegler A, DeStefano AL, König IR, Bardel C, Brinza D, Bull S, Cai Z, Glaser B, Jiang W, Lee KE, Li CX, Li J, Li X, Majoram P, Meng Y, Nicodemus KK, Platt A, Schwarz DF, Shi W, Shugart YY, Stassen HH, Sun YV, Won S, Wang W, Wahba G, Zagaar UA, Zhao Z. Ziegler A, et al. Among authors: bardel c. Genet Epidemiol. 2007;31 Suppl 1:S51-60. doi: 10.1002/gepi.20280. Genet Epidemiol. 2007. PMID: 18046765
Issues in association mapping with high-density SNP data and diverse family structures.
Bickeböller H, Goddard KA, Igo RP Jr, Kraft P, Lozano JP, Pankratz N, Balavarca Y, Bardel C, Charoen P, Croiseau P, Guo CY, Joo J, Köhler K, Madsen A, Malzahn D, Monsees G, Sohns M, Ye Z. Bickeböller H, et al. Among authors: bardel c. Genet Epidemiol. 2007;31 Suppl 1:S22-33. doi: 10.1002/gepi.20277. Genet Epidemiol. 2007. PMID: 18046763
Single, short in-del, and copy number variations detection in monogenic dyslipidemia using a next-generation sequencing strategy.
Marmontel O, Charrière S, Simonet T, Bonnet V, Dumont S, Mahl M, Jacobs C, Nony S, Chabane K, Bozon D, Janin A, Peretti N, Lachaux A, Bardel C, Millat G, Moulin P, Marçais C, Di Filippo M. Marmontel O, et al. Among authors: bardel c. Clin Genet. 2018 Jul;94(1):132-140. doi: 10.1111/cge.13250. Epub 2018 Apr 25. Clin Genet. 2018. PMID: 29572815
Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis.
Chatron N, Cassinari K, Quenez O, Baert-Desurmont S, Bardel C, Buisine MP, Calpena E, Capri Y, Corominas Galbany J, Diguet F, Edery P, Isidor B, Labalme A, Le Caignec C, Lévy J, Lecoquierre F, Lindenbaum P, Pichon O, Rollat-Farnier PA, Simonet T, Saugier-Veber P, Tabet AC, Toutain A, Wilkie AOM, Lesca G, Sanlaville D, Nicolas G, Schluth-Bolard C. Chatron N, et al. Among authors: bardel c. Hum Mutat. 2019 Nov;40(11):1993-2000. doi: 10.1002/humu.23845. Epub 2019 Jul 12. Hum Mutat. 2019. PMID: 31230393
Genome sequencing in cytogenetics: Comparison of short-read and linked-read approaches for germline structural variant detection and characterization.
Uguen K, Jubin C, Duffourd Y, Bardel C, Malan V, Dupont JM, El Khattabi L, Chatron N, Vitobello A, Rollat-Farnier PA, Baulard C, Lelorch M, Leduc A, Tisserant E, Tran Mau-Them F, Danjean V, Delepine M, Till M, Meyer V, Lyonnet S, Mosca-Boidron AL, Thevenon J, Faivre L, Thauvin-Robinet C, Schluth-Bolard C, Boland A, Olaso R, Callier P, Romana S, Deleuze JF, Sanlaville D. Uguen K, et al. Among authors: bardel c. Mol Genet Genomic Med. 2020 Mar;8(3):e1114. doi: 10.1002/mgg3.1114. Epub 2020 Jan 27. Mol Genet Genomic Med. 2020. PMID: 31985172 Free PMC article.
59 results