The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies J Manry, P Bastard, A Gervais, T Le Voyer, J Rosain, Q Philippot, ... Proceedings of the National Academy of Sciences 119 (21), 2022 | 127 | 2022 |
Curated variation benchmarks for challenging medically relevant autosomal genes J Wagner, ND Olson, L Harris, J McDaniel, H Cheng, A Fungtammasan, ... Nature biotechnology 40 (5), 672-680, 2022 | 123 | 2022 |
PrecisionFDA Truth Challenge V2: Calling variants from short and long reads in difficult-to-map regions ND Olson, J Wagner, J McDaniel, SH Stephens, ST Westreich, ... Cell genomics 2 (5), 2022 | 115 | 2022 |
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) L Ciuffreda, JM Lorenzo-Salazar, D García-Martínez de Artola, ... Emerging Microbes & Infections 12 (1), 2202281, 2023 | 18 | 2023 |
PCSK6 and survival in idiopathic pulmonary fibrosis JM Oldham, RJ Allen, JM Lorenzo-Salazar, PL Molyneaux, SF Ma, ... American Journal of Respiratory and Critical Care Medicine 207 (11), 1515-1524, 2023 | 15 | 2023 |
Evaluation of whole-exome enrichment solutions: lessons from the high-end of the short-read sequencing scale A Díaz-de Usera, JM Lorenzo-Salazar, LA Rubio-Rodríguez, ... Journal of Clinical Medicine 9 (11), 3656, 2020 | 15 | 2020 |
A benchmarking of human mitochondrial DNA haplogroup classifiers from whole-genome and whole-exome sequence data V García-Olivares, A Muñoz-Barrera, JM Lorenzo-Salazar, ... Scientific reports 11 (1), 20510, 2021 | 12 | 2021 |
Transactive response DNA-binding protein (TARDBP/TDP-43) regulates cell permissivity to HIV-1 infection by acting on HDAC6 R Cabrera-Rodríguez, S Pérez-Yanes, R Montelongo, ... International journal of molecular sciences 23 (11), 6180, 2022 | 9 | 2022 |
Evaluation of a whole‐exome sequencing pipeline and benchmarking of causal germline variant prioritizers E Tosco‐Herrera, A Muñoz‐Barrera, D Jaspez, LA Rubio‐Rodríguez, ... Human Mutation 43 (12), 2010-2020, 2022 | 7 | 2022 |
A draft of the first genome sequence of monkeypox virus associated with the multi-country outbreak in may 2022 from the canary islands, spain J Alcoba-Florez, A Muñoz-Barrera, L Ciuffreda, H Rodríguez-Pérez, ... Virological (Monkeypox/Genome Reports), 2022 | 3 | 2022 |
Interactive web-based resource for annotation of genetic variants causing hereditary angioedema (hada): Database development, implementation, and validation A Mendoza-Alvarez, A Muñoz-Barrera, LA Rubio-Rodríguez, ... Journal of Medical Internet Research 22 (10), e19040, 2020 | 3 | 2020 |
Bioinformatic approaches to draft the viral genome sequence of Canary Islands cases related to the multicountry mpox virus 2022-outbreak A Muñoz-Barrera, L Ciuffreda, J Alcoba-Florez, LA Rubio-Rodríguez, ... Computational and Structural Biotechnology Journal 21, 2197-2203, 2023 | 2 | 2023 |
From Samples to Germline and Somatic Sequence Variation: A Focus on Next-Generation Sequencing in Melanoma Research A Muñoz-Barrera, LA Rubio-Rodríguez, A Díaz-de Usera, D Jáspez, ... Life 12 (11), 1939, 2022 | 2 | 2022 |
A catalog of the genetic causes of hereditary angioedema in the Canary Islands (Spain) A Mendoza-Alvarez, E Tosco-Herrera, A Muñoz-Barrera, ... Frontiers in Immunology 13, 997148, 2022 | 2 | 2022 |
Digging into the admixture strata of current-day Canary Islanders based on mitogenomes V García-Olivares, LA Rubio-Rodríguez, A Muñoz-Barrera, ... iScience 26 (1), 2023 | 1 | 2023 |
Developing CIRdb as a catalog of natural genetic variation in the Canary Islanders A Díaz-de Usera, LA Rubio-Rodríguez, A Muñoz-Barrera, ... Scientific Reports 12 (1), 16132, 2022 | 1 | 2022 |
Pharmacogenomics in the Canary Islands population: a comparison of assessment by different technologies A Diaz-de Usera, LA Rubio-Rodriguez, A Munoz-Barrera, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 637-638, 2024 | | 2024 |
Assessment of sequencing coverage uniformity for two whole-exome enrichment capture solutions D Jaspez, A Munoz-Barrera, LA Rubio-Rodriguez, V Garcia-Olivares, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 674-675, 2024 | | 2024 |
A benchmarking of human Y-chromosome haplogroup classifiers and a characterization of contemporary patrilineages of the Canary Islands V Garcia-Olivares, A Munoz-Barrera, LA Rubio-Rodriguez, D Jaspez, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 710-710, 2024 | | 2024 |
OPEN ACCESS EDITED BY EJM Toonen, Y Cao, C Suffritti, C Flores, A Mendoza-Alvarez, ... Current Challenges in Complement Diagnostics, 174, 2023 | | 2023 |