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Page 1
Small variant benchmark from a complete assembly of X and Y chromosomes.
Wagner J, Olson ND, McDaniel J, Harris L, Pinto BJ, Jáspez D, Muñoz-Barrera A, Rubio-Rodríguez LA, Lorenzo-Salazar JM, Flores C, Sahraeian SME, Narzisi G, Byrska-Bishop M, Evani US, Xiao C, Lake JA, Fontana P, Greenberg C, Freed D, Mootor MFE, Boutros PC, Murray L, Shafin K, Carroll A, Sedlazeck FJ, Wilson M, Zook JM. Wagner J, et al. Among authors: munoz barrera a. Nat Commun. 2025 Jan 8;16(1):497. doi: 10.1038/s41467-024-55710-z. Nat Commun. 2025. PMID: 39779690 Free PMC article.
A robust benchmark for detecting low-frequency variants in the HG002 Genome In A Bottle NIST reference material.
Daniels CA, Abdulkadir A, Cleveland MH, McDaniel JH, Jáspez D, Rubio-Rodríguez LA, Muñoz-Barrera A, Lorenzo-Salazar JM, Flores C, Yoo B, Sahraeian SME, Wang Y, Rossi M, Visvanath A, Murray L, Chen WT, Catreux S, Han J, Mehio R, Parnaby G, Carroll A, Chang PC, Shafin K, Cook D, Kolesnikov A, Brambrink L, Mootor MFE, Patel Y, Yamaguchi TN, Boutros PC, Sienkiewicz K, Foox J, Mason CE, Lajoie BR, Ruiz-Perez CA, Kruglyak S, Zook JM, Olson ND. Daniels CA, et al. Among authors: munoz barrera a. bioRxiv [Preprint]. 2024 Dec 5:2024.12.02.625685. doi: 10.1101/2024.12.02.625685. bioRxiv. 2024. PMID: 39677813 Free PMC article. Preprint.
Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 infection.
Marchal A, Cirulli ET, Neveux I, Bellos E, Thwaites RS, Schiabor Barrett KM, Zhang Y, Nemes-Bokun I, Kalinova M, Catchpole A, Tangye SG, Spaan AN, Lack JB, Ghosn J, Burdet C, Gorochov G, Tubach F, Hausfater P; COVID Human Genetic Effort; COVIDeF Study Group; French COVID Cohort Study Group; CoV-Contact Cohort; COVID-STORM Clinicians; COVID Clinicians; Orchestra Working Group; Amsterdam UMC COVID-19 Biobank; NIAID-USUHS COVID Study Group; Dalgard CL, Zhang SY, Zhang Q, Chiu C, Fellay J, Grzymski JJ, Sancho-Shimizu V, Abel L, Casanova JL, Cobat A, Bolze A. Marchal A, et al. HGG Adv. 2024 Jul 18;5(3):100300. doi: 10.1016/j.xhgg.2024.100300. Epub 2024 Apr 26. HGG Adv. 2024. PMID: 38678364 Free PMC article.
Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.
Matuozzo D, Talouarn E, Marchal A, Zhang P, Manry J, Seeleuthner Y, Zhang Y, Bolze A, Chaldebas M, Milisavljevic B, Gervais A, Bastard P, Asano T, Bizien L, Barzaghi F, Abolhassani H, Tayoun AA, Aiuti A, Darazam IA, Allende LM, Alonso-Arias R, Arias AA, Aytekin G, Bergman P, Bondesan S, Bryceson YT, Bustos IG, Cabrera-Marante O, Carcel S, Carrera P, Casari G, Chaïbi K, Colobran R, Condino-Neto A, Covill LE, Delmonte OM, Zein LE, Flores C, Gregersen PK, Gut M, Haerynck F, Halwani R, Hancerli S, Hammarström L, Hatipoğlu N, Karbuz A, Keles S, Kyheng C, Leon-Lopez R, Franco JL, Mansouri D, Martinez-Picado J, Akcan OM, Migeotte I, Morange PE, Morelle G, Martin-Nalda A, Novelli G, Novelli A, Ozcelik T, Palabiyik F, Pan-Hammarström Q, de Diego RP, Planas-Serra L, Pleguezuelo DE, Prando C, Pujol A, Reyes LF, Rivière JG, Rodriguez-Gallego C, Rojas J, Rovere-Querini P, Schlüter A, Shahrooei M, Sobh A, Soler-Palacin P, Tandjaoui-Lambiotte Y, Tipu I, Tresoldi C, Troya J, van de Beek D, Zatz M, Zawadzki P, Al-Muhsen SZ, Alosaimi MF, Alsohime FM, Baris-Feldman H, Butte MJ, Constantinescu SN, Cooper MA, Dalgard CL, Fellay J, Heath JR, Lau YL, Lifton RP, Maniatis T, Mogensen TH, von Bernuth H, Le… See abstract for full author list ➔ Matuozzo D, et al. Genome Med. 2024 Jan 6;16(1):6. doi: 10.1186/s13073-023-01278-0. Genome Med. 2024. PMID: 38184654 Free PMC article. No abstract available.
Benchmarking of human Y-chromosomal haplogroup classifiers with whole-genome and whole-exome sequence data.
García-Olivares V, Muñoz-Barrera A, Rubio-Rodríguez LA, Jáspez D, Díaz-de Usera A, Iñigo-Campos A, Veeramah KR, Alonso S, Thomas MG, Lorenzo-Salazar JM, González-Montelongo R, Flores C. García-Olivares V, et al. Among authors: munoz barrera a. Comput Struct Biotechnol J. 2023 Sep 15;21:4613-4618. doi: 10.1016/j.csbj.2023.09.012. eCollection 2023. Comput Struct Biotechnol J. 2023. PMID: 37817776 Free PMC article.
Reinfection rate and disease severity of the BA.5 Omicron SARS-CoV-2 lineage compared to previously circulating variants of concern in the Canary Islands (Spain).
Ciuffreda L, Lorenzo-Salazar JM, García-Martínez de Artola D, Gil-Campesino H, Alcoba-Florez J, Rodríguez-Pérez H, Íñigo-Campos A, Salas-Hernández J, Rodríguez-Nuñez J, Muñoz-Barrera A, Valenzuela-Fernández A, Díez-Gil O, González-Montelongo R, Flores C. Ciuffreda L, et al. Among authors: munoz barrera a. Emerg Microbes Infect. 2023 Dec;12(1):2202281. doi: 10.1080/22221751.2023.2202281. Emerg Microbes Infect. 2023. PMID: 37039029 Free PMC article.
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.
Matuozzo D, Talouarn E, Marchal A, Zhang P, Manry J, Seeleuthner Y, Zhang Y, Bolze A, Chaldebas M, Milisavljevic B, Gervais A, Bastard P, Asano T, Bizien L, Barzaghi F, Abolhassani H, Abou Tayoun A, Aiuti A, Alavi Darazam I, Allende LM, Alonso-Arias R, Arias AA, Aytekin G, Bergman P, Bondesan S, Bryceson YT, Bustos IG, Cabrera-Marante O, Carcel S, Carrera P, Casari G, Chaïbi K, Colobran R, Condino-Neto A, Covill LE, Delmonte OM, El Zein L, Flores C, Gregersen PK, Gut M, Haerynck F, Halwani R, Hancerli S, Hammarström L, Hatipoğlu N, Karbuz A, Keles S, Kyheng C, Leon-Lopez R, Franco JL, Mansouri D, Martinez-Picado J, Metin Akcan O, Migeotte I, Morange PE, Morelle G, Martin-Nalda A, Novelli G, Novelli A, Ozcelik T, Palabiyik F, Pan-Hammarström Q, de Diego RP, Planas-Serra L, Pleguezuelo DE, Prando C, Pujol A, Reyes LF, Rivière JG, Rodriguez-Gallego C, Rojas J, Rovere-Querini P, Schlüter A, Shahrooei M, Sobh A, Soler-Palacin P, Tandjaoui-Lambiotte Y, Tipu I, Tresoldi C, Troya J, van de Beek D, Zatz M, Zawadzki P, Al-Muhsen SZ, Alosaimi MF, Alsohime FM, Baris-Feldman H, Butte MJ, Constantinescu SN, Cooper MA, Dalgard CL, Fellay J, Heath JR, Lau YL, Lifton RP, Maniatis T, Mogensen TH, v… See abstract for full author list ➔ Matuozzo D, et al. Genome Med. 2023 Apr 5;15(1):22. doi: 10.1186/s13073-023-01173-8. Genome Med. 2023. PMID: 37020259 Free PMC article.
Bioinformatic approaches to draft the viral genome sequence of Canary Islands cases related to the multicountry mpox virus 2022-outbreak.
Muñoz-Barrera A, Ciuffreda L, Alcoba-Florez J, Rubio-Rodríguez LA, Rodríguez-Pérez H, Gil-Campesino H, García-Martínez de Artola D, Salas-Hernández J, Rodríguez-Núñez J, Íñigo-Campos A, García-Olivares V, Díez-Gil O, González-Montelongo R, Valenzuela-Fernández A, Lorenzo-Salazar JM, Flores C. Muñoz-Barrera A, et al. Comput Struct Biotechnol J. 2023;21:2197-2203. doi: 10.1016/j.csbj.2023.03.020. Epub 2023 Mar 15. Comput Struct Biotechnol J. 2023. PMID: 36968018 Free PMC article.
PCSK6 and Survival in Idiopathic Pulmonary Fibrosis.
Oldham JM, Allen RJ, Lorenzo-Salazar JM, Molyneaux PL, Ma SF, Joseph C, Kim JS, Guillen-Guio B, Hernández-Beeftink T, Kropski JA, Huang Y, Lee CT, Adegunsoye A, Pugashetti JV, Linderholm AL, Vo V, Strek ME, Jou J, Muñoz-Barrera A, Rubio-Rodriguez LA, Hubbard R, Hirani N, Whyte MKB, Hart S, Nicholson AG, Lancaster L, Parfrey H, Rassl D, Wallace W, Valenzi E, Zhang Y, Mychaleckyj J, Stockwell A, Kaminski N, Wolters PJ, Molina-Molina M, Banovich NE, Fahy WA, Martinez FJ, Hall IP, Tobin MD, Maher TM, Blackwell TS, Yaspan BL, Jenkins RG, Flores C, Wain LV, Noth I. Oldham JM, et al. Among authors: munoz barrera a. Am J Respir Crit Care Med. 2023 Jun 1;207(11):1515-1524. doi: 10.1164/rccm.202205-0845OC. Am J Respir Crit Care Med. 2023. PMID: 36780644 Free PMC article.
Digging into the admixture strata of current-day Canary Islanders based on mitogenomes.
García-Olivares V, Rubio-Rodríguez LA, Muñoz-Barrera A, Díaz-de Usera A, Jáspez D, Iñigo-Campos A, Rodríguez Pérez MDC, Cabrera de León A, Lorenzo-Salazar JM, González-Montelongo R, Cabrera VM, Flores C. García-Olivares V, et al. Among authors: munoz barrera a. iScience. 2022 Dec 29;26(1):105907. doi: 10.1016/j.isci.2022.105907. eCollection 2023 Jan 20. iScience. 2022. PMID: 36647378 Free PMC article.
25 results