Evaluation of a whole‐exome sequencing pipeline and benchmarking of causal germline variant prioritizers
Tosco‐Herrera, Eva, Muñoz‐Barrera, Adrián, Jáspez, David, Rubio‐Rodríguez, Luis A., Mendoza‐Alvarez, Alejandro, Rodriguez‐Perez, Hector, Jou, Jonathan, Iñigo‐Campos, Antonio, Corrales, Almudena, Ciuffreda, Laura, Martinez‐Bugallo, Francisco, Prieto‐Morin, Carol, García‐Olivares, Víctor, González‐Montelongo, Rafaela, Lorenzo‐Salazar, Jose Miguel, Marcelino‐Rodriguez, Itahisa, Flores, Carlos
Published in Human mutation (01.12.2022)
Published in Human mutation (01.12.2022)
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Journal Article
A genome-wide association study of adults with community-acquired pneumonia
Suarez-Pajes, Eva, Marcelino-Rodriguez, Itahisa, Hernández Brito, Elisa, Gonzalez-Barbuzano, Silvia, Ramirez-Falcon, Melody, Tosco-Herrera, Eva, Rubio-Rodríguez, Luis A, Briones, María Luisa, Rajas, Olga, Borderías, Luis, Ferreres, Jose, Payeras, Antoni, Lorente, Leonardo, Aspa, Javier, Lorenzo Salazar, Jose M, Valencia-Gallardo, José Manuel, Carbonell, Nieves, Freixinet, Jorge L, Rodríguez de Castro, Felipe, Solé Violán, Jordi, Flores, Carlos, Rodríguez-Gallego, Carlos
Published in Respiratory research (16.10.2024)
Published in Respiratory research (16.10.2024)
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Journal Article
A benchmarking of human mitochondrial DNA haplogroup classifiers from whole-genome and whole-exome sequence data
García-Olivares, Víctor, Muñoz-Barrera, Adrián, Lorenzo-Salazar, José M., Zaragoza-Trello, Carlos, Rubio-Rodríguez, Luis A., Díaz-de Usera, Ana, Jáspez, David, Iñigo-Campos, Antonio, González-Montelongo, Rafaela, Flores, Carlos
Published in Scientific reports (15.10.2021)
Published in Scientific reports (15.10.2021)
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Journal Article
Wilson Disease Prevalence: Discrepancy Between Clinical Records, Registries and Mutation Carrier Frequency
Lorente-Arencibia, Pascual, García-Villarreal, Luis, González-Montelongo, Rafaela, Rubio-Rodríguez, Luis A, Flores, Carlos, Garay-Sánchez, Paloma, delaCruz, Tanausú, Santana-Verano, Milagros, Rodríguez-Esparragón, Francisco, Benitez-Reyes, Juana N, Fernández-Fuertes, Fernando, Tugores, Antonio
Published in Journal of pediatric gastroenterology and nutrition (01.02.2022)
Published in Journal of pediatric gastroenterology and nutrition (01.02.2022)
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Journal Article
Transactive Response DNA-Binding Protein (TARDBP/TDP-43) Regulates Cell Permissivity to HIV-1 Infection by Acting on HDAC6
Cabrera-Rodríguez, Romina, Pérez-Yanes, Silvia, Montelongo, Rafaela, Lorenzo-Salazar, José M, Estévez-Herrera, Judith, García-Luis, Jonay, Íñigo-Campos, Antonio, Rubio-Rodríguez, Luis A, Muñoz-Barrera, Adrián, Trujillo-González, Rodrigo, Dorta-Guerra, Roberto, Casado, Concha, Pernas, María, Blanco, Julià, Flores, Carlos, Valenzuela-Fernández, Agustín
Published in International journal of molecular sciences (31.05.2022)
Published in International journal of molecular sciences (31.05.2022)
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Journal Article
Developing CIRdb as a catalog of natural genetic variation in the Canary Islanders
Díaz-de Usera, Ana, Rubio-Rodríguez, Luis A., Muñoz-Barrera, Adrián, Lorenzo-Salazar, Jose M., Guillen-Guio, Beatriz, Jáspez, David, Corrales, Almudena, Íñigo-Campos, Antonio, García-Olivares, Víctor, Rodríguez Pérez, María Del Cristo, Marcelino-Rodríguez, Itahisa, Cabrera de León, Antonio, González-Montelongo, Rafaela, Flores, Carlos
Published in Scientific reports (27.09.2022)
Published in Scientific reports (27.09.2022)
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Journal Article
Genomic epidemiology of the primary methicillin-resistant Staphylococcus aureus clones causing invasive infections in Paraguayan children
Guillén, Rosa, Salinas, Claudia, Mendoza-Álvarez, Alejandro, Rubio Rodríguez, Luis A, Díaz-de Usera, Ana, Lorenzo-Salazar, José M, González-Montelongo, Rafaela, Flores, Carlos, Rodríguez, Fátima
Published in Microbiology spectrum (02.04.2024)
Published in Microbiology spectrum (02.04.2024)
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Journal Article
A catalog of the genetic causes of hereditary angioedema in the Canary Islands (Spain)
Mendoza-Alvarez, Alejandro, Tosco-Herrera, Eva, Muñoz-Barrera, Adrian, Rubio-Rodríguez, Luis A, Alonso-Gonzalez, Aitana, Corrales, Almudena, Iñigo-Campos, Antonio, Almeida-Quintana, Lourdes, Martin-Fernandez, Elena, Martinez-Beltran, Dara, Perez-Rodriguez, Eva, Callero, Ariel, Garcia-Robaina, Jose C, González-Montelongo, Rafaela, Marcelino-Rodriguez, Itahisa, Lorenzo-Salazar, Jose M, Flores, Carlos
Published in Frontiers in immunology (20.09.2022)
Published in Frontiers in immunology (20.09.2022)
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Journal Article
From Samples to Germline and Somatic Sequence Variation: A Focus on Next-Generation Sequencing in Melanoma Research
Muñoz-Barrera, Adrián, Rubio-Rodríguez, Luis A, Díaz-de Usera, Ana, Jáspez, David, Lorenzo-Salazar, José M, González-Montelongo, Rafaela, García-Olivares, Víctor, Flores, Carlos
Published in Life (Basel, Switzerland) (01.11.2022)
Published in Life (Basel, Switzerland) (01.11.2022)
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Journal Article
Benchmarking of human Y-chromosomal haplogroup classifiers with whole-genome and whole-exome sequence data
García-Olivares, Víctor, Muñoz-Barrera, Adrián, Rubio-Rodríguez, Luis A., Jáspez, David, Díaz-de Usera, Ana, Iñigo-Campos, Antonio, Veeramah, Krishna R., Alonso, Santos, Thomas, Mark G., Lorenzo-Salazar, José M., González-Montelongo, Rafaela, Flores, Carlos
Published in Computational and structural biotechnology journal (01.01.2023)
Published in Computational and structural biotechnology journal (01.01.2023)
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Journal Article
Bioinformatic approaches to draft the viral genome sequence of Canary Islands cases related to the multicountry mpox virus 2022-outbreak
Muñoz-Barrera, Adrián, Ciuffreda, Laura, Alcoba-Florez, Julia, Rubio-Rodríguez, Luis A., Rodríguez-Pérez, Héctor, Gil-Campesino, Helena, García-Martínez de Artola, Diego, Salas-Hernández, Josmar, Rodríguez-Núñez, Julia, Íñigo-Campos, Antonio, García-Olivares, Víctor, Díez-Gil, Oscar, González-Montelongo, Rafaela, Valenzuela-Fernández, Agustín, Lorenzo-Salazar, José M., Flores, Carlos
Published in Computational and structural biotechnology journal (01.01.2023)
Published in Computational and structural biotechnology journal (01.01.2023)
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Journal Article
Digging into the admixture strata of current-day Canary Islanders based on mitogenomes
García-Olivares, Víctor, Rubio-Rodríguez, Luis A., Muñoz-Barrera, Adrián, Díaz-de Usera, Ana, Jáspez, David, Iñigo-Campos, Antonio, Rodríguez Pérez, María Del Cristo, Cabrera de León, Antonio, Lorenzo-Salazar, José M., González-Montelongo, Rafaela, Cabrera, Vicente M., Flores, Carlos
Published in iScience (20.01.2023)
Published in iScience (20.01.2023)
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Journal Article
Evaluation of Whole-Exome Enrichment Solutions: Lessons from the High-End of the Short-Read Sequencing Scale
Díaz-de Usera, Ana, Lorenzo-Salazar, Jose, Rubio-Rodríguez, Luis, Muñoz-Barrera, Adrián, Guillen-Guio, Beatriz, Marcelino-Rodríguez, Itahisa, García-Olivares, Víctor, Mendoza-Alvarez, Alejandro, Corrales, Almudena, Íñigo-Campos, Antonio, González-Montelongo, Rafaela, Flores, Carlos
Published in Journal of clinical medicine (13.11.2020)
Published in Journal of clinical medicine (13.11.2020)
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Journal Article
Curated variation benchmarks for challenging medically relevant autosomal genes
Wagner, Justin, Olson, Nathan D., Harris, Lindsay, McDaniel, Jennifer, Cheng, Haoyu, Fungtammasan, Arkarachai, Hwang, Yih-Chii, Gupta, Richa, Wenger, Aaron M., Rowell, William J., Khan, Ziad M., Farek, Jesse, Zhu, Yiming, Pisupati, Aishwarya, Mahmoud, Medhat, Xiao, Chunlin, Yoo, Byunggil, Sahraeian, Sayed Mohammad Ebrahim, Miller, Danny E., Jáspez, David, Lorenzo-Salazar, José M., Muñoz-Barrera, Adrián, Rubio-Rodríguez, Luis A., Flores, Carlos, Narzisi, Giuseppe, Evani, Uday Shanker, Clarke, Wayne E., Lee, Joyce, Mason, Christopher E., Lincoln, Stephen E., Miga, Karen H., Ebbert, Mark T. W., Shumate, Alaina, Li, Heng, Chin, Chen-Shan, Zook, Justin M., Sedlazeck, Fritz J.
Published in Nature biotechnology (01.05.2022)
Published in Nature biotechnology (01.05.2022)
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Journal Article
PrecisionFDA Truth Challenge V2: Calling variants from short and long reads in difficult-to-map regions
Olson, Nathan D., Wagner, Justin, McDaniel, Jennifer, Stephens, Sarah H., Westreich, Samuel T., Prasanna, Anish G., Johanson, Elaine, Boja, Emily, Maier, Ezekiel J., Serang, Omar, Jáspez, David, Lorenzo-Salazar, José M., Muñoz-Barrera, Adrián, Rubio-Rodríguez, Luis A., Flores, Carlos, Kyriakidis, Konstantinos, Malousi, Andigoni, Shafin, Kishwar, Pesout, Trevor, Jain, Miten, Paten, Benedict, Chang, Pi-Chuan, Kolesnikov, Alexey, Nattestad, Maria, Baid, Gunjan, Goel, Sidharth, Yang, Howard, Carroll, Andrew, Eveleigh, Robert, Bourgey, Mathieu, Bourque, Guillaume, Li, Gen, Ma, ChouXian, Tang, LinQi, Du, YuanPing, Zhang, ShaoWei, Morata, Jordi, Tonda, Raúl, Parra, Genís, Trotta, Jean-Rémi, Brueffer, Christian, Demirkaya-Budak, Sinem, Kabakci-Zorlu, Duygu, Turgut, Deniz, Kalay, Özem, Budak, Gungor, Narcı, Kübra, Arslan, Elif, Brown, Richard, Johnson, Ivan J., Dolgoborodov, Alexey, Semenyuk, Vladimir, Jain, Amit, Tetikol, H. Serhat, Jain, Varun, Ruehle, Mike, Lajoie, Bryan, Roddey, Cooper, Catreux, Severine, Mehio, Rami, Ahsan, Mian Umair, Liu, Qian, Wang, Kai, Ebrahim Sahraeian, Sayed Mohammad, Fang, Li Tai, Mohiyuddin, Marghoob, Hung, Calvin, Jain, Chirag, Feng, Hanying, Li, Zhipan, Chen, Luoqi, Sedlazeck, Fritz J., Zook, Justin M.
Published in Cell genomics (11.05.2022)
Published in Cell genomics (11.05.2022)
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Journal Article
A genome-wide association study of survival in patients with sepsis
Hernandez-Beeftink, Tamara, Guillen-Guio, Beatriz, Lorenzo-Salazar, Jose M, Corrales, Almudena, Suarez-Pajes, Eva, Feng, Rui, Rubio-Rodríguez, Luis A, Paynton, Megan L, Cruz, Raquel, García-Laorden, M Isabel, Prieto-González, Miryam, Rodríguez-Pérez, Aurelio, Carriedo, Demetrio, Blanco, Jesús, Ambrós, Alfonso, González-Higueras, Elena, Espinosa, Elena, Muriel, Arturo, Tamayo, Eduardo, Martin, María M, Lorente, Leonardo, Domínguez, David, de Lorenzo, Abelardo García, Giannini, Heather M, Reilly, John P, Jones, Tiffanie K, Añón, José M, Soro, Marina, Carracedo, Ángel, Wain, Louise V, Meyer, Nuala J, Villar, Jesús, Flores, Carlos
Published in Critical care (London, England) (05.11.2022)
Published in Critical care (London, England) (05.11.2022)
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Journal Article
PCSK6 and Survival in Idiopathic Pulmonary Fibrosis
Oldham, Justin M, Allen, Richard J, Lorenzo-Salazar, Jose M, Molyneaux, Philip L, Ma, Shwu-Fan, Joseph, Chitra, Kim, John S, Guillen-Guio, Beatriz, Hernández-Beeftink, Tamara, Kropski, Jonathan A, Huang, Yong, Lee, Cathryn T, Adegunsoye, Ayodeji, Pugashetti, Janelle Vu, Linderholm, Angela L, Vo, Vivian, Strek, Mary E, Jou, Jonathan, Muñoz-Barrera, Adrian, Rubio-Rodriguez, Luis A, Hubbard, Richard, Hirani, Nik, Whyte, Moira K B, Hart, Simon, Nicholson, Andrew G, Lancaster, Lisa, Parfrey, Helen, Rassl, Doris, Wallace, William, Valenzi, Eleanor, Zhang, Yingze, Mychaleckyj, Josyf, Stockwell, Amy, Kaminski, Naftali, Wolters, Paul J, Molina-Molina, Maria, Banovich, Nicholas E, Fahy, William A, Martinez, Fernando J, Hall, Ian P, Tobin, Martin D, Maher, Toby M, Blackwell, Timothy S, Yaspan, Brian L, Jenkins, R Gisli, Flores, Carlos, Wain, Louise V, Noth, Imre
Published in American journal of respiratory and critical care medicine (01.06.2023)
Published in American journal of respiratory and critical care medicine (01.06.2023)
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Journal Article
precisionFDA Truth Challenge V2: Calling variants from short- and long-reads in difficult-to-map regions
Olson, Nathan D, Wagner, Justin, Mcdaniel, Jennifer, Stephens, Sarah H, Westreich, Samuel T, Prasanna, Anish G, Johanson, Elaine, Boja, Emily, Maier, Ezekiel J, Serang, Omar, Jáspez, David, Lorenzo-Salazar, José M, Muñoz-Barrera, Adrián, Rubio-Rodríguez, Luis A, Flores, Carlos, Kyriakidis, Konstantinos, Malousi, Andigoni, Shafin, Kishwar, Pesout, Trevor, Jain, Miten, Paten, Benedict, Pi-Chuan Chang, Kolesnikov, Alexey, Nattestad, Maria, Baid, Gunjan, Goel, Sidharth, Yang, Howard, Carroll, Andrew, Eveleigh, Robert, Bourgey, Mathieu, Bourque, Guillaume, Li, Gen, Ma Chouxian, Tang, Linqi, Du Yuanping, Zhang, Shaowei, Morata, Jordi, Tonda, Raúl, Parra, Genís, Jean-Rémi Trotta, Brueffer, Christian, Demirkaya-Budak, Sinem, Kabakci-Zorlu, Duygu, Turgut, Deniz, Kalay, Özem, Budak, Gungor, Narcı, Kübra, Arslan, Elif, Brown, Richard, Johnson, Ivan J, Dolgoborodov, Alexey, Semenyuk, Vladimir, Jain, Amit, Tetikol, H Serhat, Jain, Varun, Ruehle, Mike, Lajoie, Bryan, Cooper, Roddey, Catreux, Severine, Mehio, Rami, Mian Umair Ahsan, Liu, Qian, Wang, Kai, Sayed Mohammad Ebrahim Sahraeian, Li Tai Fang, Marghoob Mohiyuddin, Hung, Calvin, Jain, Chirag, Feng, Hanying, Li, Zhipan, Chen, Luoqi, Sedlazeck, Fritz J, Zook, Justin M
Published in bioRxiv (15.11.2020)
Published in bioRxiv (15.11.2020)
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Paper
Wilson Disease Prevalence
Lorente‐Arencibia, Pascual, García‐Villarreal, Luis, González‐Montelongo, Rafaela, Rubio‐Rodríguez, Luis A., Flores, Carlos, Garay‐Sánchez, Paloma, delaCruz, Tanausú, Santana‐Verano, Milagros, Rodríguez‐Esparragón, Francisco, Benitez‐Reyes, Juana N., Fernández‐Fuertes, Fernando, Tugores, Antonio
Published in Journal of pediatric gastroenterology and nutrition (01.02.2022)
Published in Journal of pediatric gastroenterology and nutrition (01.02.2022)
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Journal Article
ISCB RSG-Spain and highlights from the VIII Spanish Student Symposium in Bioinformatics and Computational Biology in 2021
Rivero, Ines, Gorines-Cordero, Guillermo Jorge, Rubio-Rodriguez, Luis A, Soler-Saez, Irene, Perpina-Clerigues, Carla, Garcia, Adrian, Monzon, Sara, Hernandez-Beeftink, Tamara
Published in bioRxiv (22.08.2022)
Published in bioRxiv (22.08.2022)
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