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GCAT|Panel, a comprehensive structural variant haplotype map of the Iberian population from high-coverage whole-genome sequencing.
Valls-Margarit J, Galván-Femenía I, Matías-Sánchez D, Blay N, Puiggròs M, Carreras A, Salvoro C, Cortés B, Amela R, Farre X, Lerga-Jaso J, Puig M, Sánchez-Herrero JF, Moreno V, Perucho M, Sumoy L, Armengol L, Delaneau O, Cáceres M, de Cid R, Torrents D. Valls-Margarit J, et al. Among authors: blay n. Nucleic Acids Res. 2022 Mar 21;50(5):2464-2479. doi: 10.1093/nar/gkac076. Nucleic Acids Res. 2022. PMID: 35176773 Free PMC article.
Assessment of kinship detection using RNA-seq data.
Blay N, Casas E, Galván-Femenía I, Graffelman J, de Cid R, Vavouri T. Blay N, et al. Nucleic Acids Res. 2019 Dec 2;47(21):e136. doi: 10.1093/nar/gkz776. Nucleic Acids Res. 2019. PMID: 31501877 Free PMC article.
Mapping the human genetic architecture of COVID-19.
COVID-19 Host Genetics Initiative. COVID-19 Host Genetics Initiative. Nature. 2021 Dec;600(7889):472-477. doi: 10.1038/s41586-021-03767-x. Epub 2021 Jul 8. Nature. 2021. PMID: 34237774 Free PMC article.
Whole-genome sequencing reveals host factors underlying critical COVID-19.
Kousathanas A, Pairo-Castineira E, Rawlik K, Stuckey A, Odhams CA, Walker S, Russell CD, Malinauskas T, Wu Y, Millar J, Shen X, Elliott KS, Griffiths F, Oosthuyzen W, Morrice K, Keating S, Wang B, Rhodes D, Klaric L, Zechner M, Parkinson N, Siddiq A, Goddard P, Donovan S, Maslove D, Nichol A, Semple MG, Zainy T, Maleady-Crowe F, Todd L, Salehi S, Knight J, Elgar G, Chan G, Arumugam P, Patch C, Rendon A, Bentley D, Kingsley C, Kosmicki JA, Horowitz JE, Baras A, Abecasis GR, Ferreira MAR, Justice A, Mirshahi T, Oetjens M, Rader DJ, Ritchie MD, Verma A, Fowler TA, Shankar-Hari M, Summers C, Hinds C, Horby P, Ling L, McAuley D, Montgomery H, Openshaw PJM, Elliott P, Walsh T, Tenesa A; GenOMICC investigators; 23andMe investigators; COVID-19 Human Genetics Initiative; Fawkes A, Murphy L, Rowan K, Ponting CP, Vitart V, Wilson JF, Yang J, Bretherick AD, Scott RH, Hendry SC, Moutsianas L, Law A, Caulfield MJ, Baillie JK. Kousathanas A, et al. Nature. 2022 Jul;607(7917):97-103. doi: 10.1038/s41586-022-04576-6. Epub 2022 Mar 7. Nature. 2022. PMID: 35255492 Free PMC article.
Detailed stratified GWAS analysis for severe COVID-19 in four European populations.
Degenhardt F, Ellinghaus D, Juzenas S, Lerga-Jaso J, Wendorff M, Maya-Miles D, Uellendahl-Werth F, ElAbd H, Rühlemann MC, Arora J, Özer O, Lenning OB, Myhre R, Vadla MS, Wacker EM, Wienbrandt L, Blandino Ortiz A, de Salazar A, Garrido Chercoles A, Palom A, Ruiz A, Garcia-Fernandez AE, Blanco-Grau A, Mantovani A, Zanella A, Holten AR, Mayer A, Bandera A, Cherubini A, Protti A, Aghemo A, Gerussi A, Ramirez A, Braun A, Nebel A, Barreira A, Lleo A, Teles A, Kildal AB, Biondi A, Caballero-Garralda A, Ganna A, Gori A, Glück A, Lind A, Tanck A, Hinney A, Carreras Nolla A, Fracanzani AL, Peschuck A, Cavallero A, Dyrhol-Riise AM, Ruello A, Julià A, Muscatello A, Pesenti A, Voza A, Rando-Segura A, Solier A, Schmidt A, Cortes B, Mateos B, Nafria-Jimenez B, Schaefer B, Jensen B, Bellinghausen C, Maj C, Ferrando C, de la Horra C, Quereda C, Skurk C, Thibeault C, Scollo C, Herr C, Spinner CD, Gassner C, Lange C, Hu C, Paccapelo C, Lehmann C, Angelini C, Cappadona C, Azuure C; COVICAT study group, Aachen Study (COVAS); Bianco C, Cea C, Sancho C, Hoff DAL, Galimberti D, Prati D, Haschka D, Jiménez D, Pestaña D, Toapanta D, Muñiz-Diaz E, Azzolini E, Sandoval E, Binatti E, Scarpini E, Helbig ET, Ca… See abstract for full author list ➔ Degenhardt F, et al. Among authors: blay n. Hum Mol Genet. 2022 Nov 28;31(23):3945-3966. doi: 10.1093/hmg/ddac158. Hum Mol Genet. 2022. PMID: 35848942 Free PMC article.
A Polygenic Risk Score Based on a Cardioembolic Stroke Multitrait Analysis Improves a Clinical Prediction Model for This Stroke Subtype.
Cárcel-Márquez J, Muiño E, Gallego-Fabrega C, Cullell N, Lledós M, Llucià-Carol L, Sobrino T, Campos F, Castillo J, Freijo M, Arenillas JF, Obach V, Álvarez-Sabín J, Molina CA, Ribó M, Jiménez-Conde J, Roquer J, Muñoz-Narbona L, Lopez-Cancio E, Millán M, Diaz-Navarro R, Vives-Bauza C, Serrano-Heras G, Segura T, Ibañez L, Heitsch L, Delgado P, Dhar R, Krupinski J, Delgado-Mederos R, Prats-Sánchez L, Camps-Renom P, Blay N, Sumoy L, de Cid R, Montaner J, Cruchaga C, Lee JM, Martí-Fàbregas J, Férnandez-Cadenas I. Cárcel-Márquez J, et al. Among authors: blay n. Front Cardiovasc Med. 2022 Jul 8;9:940696. doi: 10.3389/fcvm.2022.940696. eCollection 2022. Front Cardiovasc Med. 2022. PMID: 35872910 Free PMC article.
SARS-CoV-2 infection, vaccination, and antibody response trajectories in adults: a cohort study in Catalonia.
Karachaliou M, Moncunill G, Espinosa A, Castaño-Vinyals G, Rubio R, Vidal M, Jiménez A, Prados E, Carreras A, Cortés B, Blay N, Bañuls M, Pleguezuelos V, Melero NR, Serra P, Parras D, Izquierdo L, Santamaría P, Carolis C, Papantoniou K, Goldberg X, Aguilar R, Garcia-Aymerich J, de Cid R, Kogevinas M, Dobaño C. Karachaliou M, et al. Among authors: blay n. BMC Med. 2022 Sep 16;20(1):347. doi: 10.1186/s12916-022-02547-2. BMC Med. 2022. PMID: 36109713 Free PMC article.
Biological basis of extensive pleiotropy between blood traits and cancer risk.
Pardo-Cea MA, Farré X, Esteve A, Palade J, Espín R, Mateo F, Alsop E, Alorda M, Blay N, Baiges A, Shabbir A, Comellas F, Gómez A, Arnan M, Teulé A, Salinas M, Berrocal L, Brunet J, Rofes P, Lázaro C, Conesa M, Rojas JJ, Velten L, Fendler W, Smyczynska U, Chowdhury D, Zeng Y, He HH, Li R, Van Keuren-Jensen K, de Cid R, Pujana MA. Pardo-Cea MA, et al. Among authors: blay n. Genome Med. 2024 Feb 2;16(1):21. doi: 10.1186/s13073-024-01294-8. Genome Med. 2024. PMID: 38308367 Free PMC article.
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