Search Results - "Jaspez, David"

liqDB: a small-RNAseq knowledge discovery database for liquid biopsy studies by Aparicio-Puerta, Ernesto, Jáspez, David, Lebrón, Ricardo, Koppers-Lalic, Danijela, Marchal, Juan A, Hackenberg, Michael

“…Abstract MiRNAs are important regulators of gene expression and are frequently deregulated under pathologic conditions. They are highly stable in bodily fluids…”
Get full text

Curated variation benchmarks for challenging medically relevant autosomal genes by 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.

“…The repetitive nature and complexity of some medically relevant genes poses a challenge for their accurate analysis in a clinical setting. The Genome in a…”
Get full text

A benchmarking of human mitochondrial DNA haplogroup classifiers from whole-genome and whole-exome sequence data by 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

“…The mitochondrial genome (mtDNA) is of interest for a range of fields including evolutionary, forensic, and medical genetics. Human mitogenomes can be…”
Get full text

Developing CIRdb as a catalog of natural genetic variation in the Canary Islanders by 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

“…The current inhabitants of the Canary Islands have a unique genetic makeup in the European diversity landscape due to the existence of African footprints from…”
Get full text

Evaluation of a whole‐exome sequencing pipeline and benchmarking of causal germline variant prioritizers by 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

“…Most causal variants of Mendelian diseases are exonic. Whole‐exome sequencing (WES) has become the diagnostic gold standard, but causative variant…”
Get full text

From Samples to Germline and Somatic Sequence Variation: A Focus on Next-Generation Sequencing in Melanoma Research by 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

“…Next-generation sequencing (NGS) applications have flourished in the last decade, permitting the identification of cancer driver genes and profoundly expanding…”
Get full text

Benchmarking of human Y-chromosomal haplogroup classifiers with whole-genome and whole-exome sequence data by 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

“…In anthropological, medical, and forensic studies, the nonrecombinant region of the human Y chromosome (NRY) enables accurate reconstruction of pedigree…”
Get full text

Digging into the admixture strata of current-day Canary Islanders based on mitogenomes by 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

“…The conquest of the Canary Islands by Europeans began at the beginning of the 15th century and culminated in 1496 with the surrender of the aborigines. The…”
Get full text

sRNAbench and sRNAtoolbox 2019: intuitive fast small RNA profiling and differential expression by Aparicio-Puerta, Ernesto, Lebrón, Ricardo, Rueda, Antonio, Gómez-Martín, Cristina, Giannoukakos, Stavros, Jaspez, David, Medina, José María, Zubkovic, Andreja, Jurak, Igor, Fromm, Bastian, Marchal, Juan Antonio, Oliver, José, Hackenberg, Michael

“…Since the original publication of sRNAtoolbox in 2015, small RNA research experienced notable advances in different directions. New protocols for small RNA…”
Get full text

PrecisionFDA Truth Challenge V2: Calling variants from short and long reads in difficult-to-map regions by 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.

“…The precisionFDA Truth Challenge V2 aimed to assess the state of the art of variant calling in challenging genomic regions. Starting with FASTQs, 20 challenge…”
Get full text

PrecisionFDA Truth Challenge V2: Calling variants from short and long reads in difficult-to-map regions by 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

“…The precisionFDA Truth Challenge V2 aimed to assess the state of the art of variant calling in challenging genomic regions. Starting with FASTQs, 20 challenge…”
Get full text