Vyzkoušejte nový nástroj s podporou AI
Summon Research Assistant
BETA
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)
Get full text
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)
Get full text
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)
Get full text
Journal 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, Laura, Lorenzo-Salazar, José M., García-Martínez de Artola, Diego, Gil-Campesino, Helena, Alcoba-Florez, Julia, Rodríguez-Pérez, Héctor, Íñigo-Campos, Antonio, Salas-Hernández, Josmar, Rodríguez-Nuñez, Julia, Muñoz-Barrera, Adrián, Valenzuela-Fernández, Agustín, Díez-Gil, Oscar, González-Montelongo, Rafaela, Flores, Carlos
Published in Emerging microbes & infections (01.12.2023)
Published in Emerging microbes & infections (01.12.2023)
Get full text
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)
Get full text
Journal Article
Benchmarking of bioinformatics tools for the hybrid de novo assembly of human and non-human whole-genome sequencing data
Muñoz-Barrera, Adrián, Rubio-Rodríguez, Luis A., Jáspez, David, Corrales, Almudena, Marcelino-Rodriguez, Itahisa, Ortiz, Lourdes, Mendoza, Pablo, Lorenzo-Salazar, José M., González-Montelongo, Rafaela, Flores, Carlos
Published in Computational and structural biotechnology journal (01.01.2025)
Published in Computational and structural biotechnology journal (01.01.2025)
Get full text
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)
Get full text
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)
Get full text
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)
Get full text
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)
Get full text
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)
Get full text
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)
Get full text
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 (03.02.2021)
Published in bioRxiv (03.02.2021)
Get full text
Paper
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)
Get full text
Journal Article
Small variant benchmark from a complete assembly of X and Y chromosomes
Wagner, Justin, Olson, Nathan D., McDaniel, Jennifer, Harris, Lindsay, Pinto, Brendan J., Jáspez, David, Muñoz-Barrera, Adrián, Rubio-Rodríguez, Luis A., Lorenzo-Salazar, José M., Flores, Carlos, Sahraeian, Sayed Mohammad Ebrahim, Narzisi, Giuseppe, Byrska-Bishop, Marta, Evani, Uday S., Xiao, Chunlin, Lake, Juniper A., Fontana, Peter, Greenberg, Craig, Freed, Donald, Mootor, Mohammed Faizal Eeman, Boutros, Paul C., Murray, Lisa, Shafin, Kishwar, Carroll, Andrew, Sedlazeck, Fritz J., Wilson, Melissa, Zook, Justin M.
Published in Nature communications (08.01.2025)
Published in Nature communications (08.01.2025)
Get full text
Journal Article
Genetic variability of Shiga toxin-producing Escherichia coli strains isolated from Paraguayan cattle
Salinas, Claudia, Rodriguez, Fátima, Muñoz-Barrera, Adrián, Lorenzo Salazar, José Miguel, González-Montelongo, Rafaela, Flores, Carlos, Guillén, Rosa
Published in Microbiology spectrum (14.08.2025)
Published in Microbiology spectrum (14.08.2025)
Get full text
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)
Get full text
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)
Get full text
Journal Article
Interactive Web-Based Resource for Annotation of Genetic Variants Causing Hereditary Angioedema (HADA): Database Development, Implementation, and Validation
Mendoza-Alvarez, Alejandro, Muñoz-Barrera, Adrián, Rubio-Rodríguez, Luis Alberto, Marcelino-Rodriguez, Itahisa, Corrales, Almudena, Iñigo-Campos, Antonio, Callero, Ariel, Perez-Rodriguez, Eva, Garcia-Robaina, Jose Carlos, González-Montelongo, Rafaela, Lorenzo-Salazar, Jose Miguel, Flores, Carlos
Published in Journal of medical Internet research (09.10.2020)
Published in Journal of medical Internet research (09.10.2020)
Get full text
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)
Get full text
Journal Article