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Cross-Ancestry Investigation of Venous Thromboembolism Genomic Predictors.

Florian Thibord, Derek Klarin, Jennifer A Brody, Ming-Huei Chen, Michael G Levin, Daniel I Chasman, Ellen L Goode, Kristian Hveem, Maris Teder-Laving, Angel Martinez-Perez, Dylan Aïssi,
Delphine Daian-Bacq, Kaoru Ito, Pradeep Natarajan, Pamela L Lutsey, Girish N Nadkarni, Paul S de Vries, Gabriel Cuellar-Partida, Brooke N Wolford, Jack W Pattee, Charles Kooperberg, Sigrid K Braekkan,
Ruifang Li-Gao, Noemie Saut, Corriene Sept, Marine Germain, Renae L Judy, Kerri L Wiggins, Darae Ko, Christopher J O'Donnell, Kent D Taylor, Franco Giulianini, Mariza De Andrade, Therese H Nøst,
Anne Boland, Jean-Philippe Empana, Satoshi Koyama, Thomas Gilliland, Ron Do, Jennifer E Huffman, Xin Wang, Wei Zhou, Jose Manuel Soria, Juan Carlos Souto, Nathan Pankratz, Jeffery Haessler,
Kristian Hindberg, Frits R Rosendaal, Constance Turman, Robert Olaso, Rachel L Kember, Traci M Bartz, Julie A Lynch, Susan R Heckbert, Sebastian M Armasu, Ben Brumpton, David M Smadja,
Xavier Jouven, Issei Komuro, Katharine R Clapham, Ruth J F Loos, Cristen J Willer, Maria Sabater-Lleal, James S Pankow, Alexander P Reiner, Vania M Morelli, Paul M Ridker, Astrid van Hylckama Vlieg,
Jean-François Deleuze, Peter Kraft, Daniel J Rader, Global Biobank Meta-Analysis Initiative; Estonian Biobank Research Team; 23andMe Research Team; Biobank Japan; CHARGE Hemostasis Working Group;
Kyung Min Lee, Bruce M Psaty, Anne Heidi Skogholt, Joseph Emmerich, Pierre Suchon, Stephen S Rich, Ha My T Vy, Weihong Tang, Rebecca D Jackson, John-Bjarne Hansen, Pierre-Emmanuel Morange, Christopher Kabrhel,
David-Alexandre Trégouët, Scott M Damrauer, Andrew D Johnson, Nicholas L Smith.

Circulation, 2022 Sep 26;101161CIRCULATIONAHA122059675. doi: 10.1161/CIRCULATIONAHA.122.059675. Online ahead of print.

Testing for association with rare variants in the coding and non-coding genome: RAVA-FIRST, a new approach based on CADD deleteriousness score.

Bocher O, Ludwig TE, Oglobinsky MS, Marenne G, Deleuze JF, Suryakant S, Odeberg J, Morange PE, Trégouët DA, Perdry H, Génin E.

PLoS Genet. 2022 Sep 16;18(9):e1009923. doi: 10.1371/journal.pgen.1009923. Online ahead of print.

APOLD1 loss causes endothelial dysfunction involving cell junctions, cytoskeletal architecture, and Weibel-Palade bodies, while disrupting hemostasis.

Simon Stritt, Paquita Nurden, Alan T Nurden, Jean-François Schved, Jean-Claude Bordet, Maguelonne Roux, Marie-Christine Alessi, David-Alexandre Trégouët, Taija Mäkinen , Muriel Giansily-Blaizot

Haematologica 2022 May 31.
doi: 10.3324/haematol.2022.280816. Online ahead of print

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Publications

Cross-Ancestry Investigation of Venous Thromboembolism Genomic Predictors.

Testing for association with rare variants in the coding and non-coding genome: RAVA-FIRST, a new approach based on CADD deleteriousness score.

APOLD1 loss causes endothelial dysfunction involving cell junctions, cytoskeletal architecture, and Weibel-Palade bodies, while disrupting hemostasis.

Two SERPINC1 variants affecting N-glycosylation of Asn224 cause severe thrombophilia not detected by functional assays.

Small Open Reading Frames, How to Find Them and Determine Their Function.

Common and rare 5'UTR variants altering upstream Open Reading Frames in cardiovascular genomics.