
Selected Publications in Venous Thromboembolism Genomics
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Razzaq M, Iglesias MJ, Ibrahim-Kosta M, Goumidi L, Soukarieh O, Proust C, Roux M, Suchon P, Boland A, Daiain D, Olaso R, Havervall S, Thalin C, Butler L, Deleuze JF, Odeberg J, Morange PE, Trégouët DA. An artificial neural network approach integrating plasma proteomics and genetic data identifies PLXNA4 as a new susceptibility locus for pulmonary embolism. Sci Rep. 2021 Jul 7;11(1):14015.
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Goumidi L, Thibord F, Wiggins KL, Li-Gao R, Brown MR, van Hylckama Vlieg A, Souto JC, Soria JM, Ibrahim-Kosta M, Saut N, Daian D, Olaso R, Amouyel P, Debette S, Boland A, Bailly P, Morrison AC, Mook-Kanamori DO, Deleuze JF, Johnson A, de Vries PS, Sabater-Lleal M, Chiaroni J, Smith NL, Rosendaal FR, Chasman DI, Trégouët DA, Morange PE. Association between ABO haplotypes and the risk of venous thrombosis: impact on disease risk estimation. Blood. 2021 Apr 29;137(17):2394-2402.
- Morange PE, Peiretti F, Gourhant L, Proust C, Soukarieh O, Pulcrano-Nicolas AS, Saripella GV, Stefanucci L, Lacroix R, Ibrahim-Kosta M, Lemarié CA, Frontini M, Alessi MC, Trégouët DA, Couturaud F. A rare coding mutation in the MAST2 gene causes venous thrombosis in a French family with unexplained thrombophilia: The Breizh MAST2 Arg89Gln variant. PLoS Genet. 2021 Jan 19;17(1):e1009284.
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Labrouche-Colomer S, Soukarieh O, Proust C, Mouton C, Huguenin Y, Roux M, Besse C, Boland A, Olaso R, Constans J, Deleuze JF, Morange PE, Jaspard-Vinassa B, Trégouët DA; GenMed Consortium. A novel rare c.-39C>T mutation in the PROS1 5’UTR causing PS deficiency by creating a new upstream translation initiation codon. Clin Sci (Lond). 2020 May 29;134(10):1181-1190
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Thibord F, Munsch G, Perret C, Suchon P, Roux M, Ibrahim-Kosta M, Goumidi L, Deleuze JF, Morange PE, Trégouët DA. Bayesian network analysis of plasma microRNA sequencing data in patients with venous thrombosis. Eur Heart J Suppl. 2020 Apr;22(Suppl C):C34-C45.
- Lindström S, […], Trégouët DA, Smith NL. Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism. Blood. 2019 Nov 7;134(19):1645-1657.
Selected Publications in Bioinformatics
- Soukarieh O, Meguerditchian C, Proust C, Aïssi D, Eyries M, Goyenvalle A, Trégouët DA. Common and Rare 5’UTR Variants Altering Upstream Open Reading Frames in Cardiovascular Genomics. Front Cardiovasc Med. 2022 Mar 21;9:841032 [work related to the MORFEE program – see next publication]
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Aïssi A, Soukarieh O, Proust C, Jaspard-Vinassa B, Fautrad P, Ibrahim-Kosta M, Leal-Valentim F, Roux M, Bacq-Daian D, Olaso R, Deleuze JF, Morange PE, Trégouët DA, on behalf of the GENMED Consortium. MORFEE: a new tool for detecting and annotating single nucleotide variants creating premature ATG codons from VCF files. bioRxiv 2020.03.29.012054; doi: https://doi.org/10.1101/2020.03.29.012054
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Thibord, F., Perret, C., Roux, M., Suchon, P., Germain, M., Deleuze, J.-F., Morange, P.-E., Trégouët, D.-A., GENMED Consortium, 2019. OPTIMIR, a novel algorithm for integrating available genome-wide genotype data into miRNA sequence alignment analysis. RNA 25, 657–668.
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Khan, W., Varma Saripella, G., Ludwig, T., Cuppens, T., Thibord, F., Génin, E., Deleuze, J.-F., Trégouët, D.-A., 2018. MACARON: a python framework to identify and re-annotate multi-base affected codons in whole genome/exome sequence data. Bioinformatics 34, 3396–3398.