sRNAbench and sRNAtoolbox 2019: intuitive fast small RNA profiling and differential expression E Aparicio-Puerta, R Lebrón, A Rueda, C Gómez-Martín, S Giannoukakos, ... Nucleic acids research 47 (W1), W530-W535, 2019 | 166 | 2019 |
Curated variation benchmarks for challenging medically relevant autosomal genes J Wagner, ND Olson, L Harris, J McDaniel, H Cheng, A Fungtammasan, ... Nature Biotechnology, 1-9, 2022 | 143 | 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 | 133 | 2022 |
liqDB: a small-RNAseq knowledge discovery database for liquid biopsy studies E Aparicio-Puerta, D Jáspez, R Lebron, D Koppers-Lalic, JA Marchal, ... Nucleic acids research 47 (D1), D113-D120, 2019 | 17 | 2019 |
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 |
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 | 8 | 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 | 5 | 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 | 3 | 2022 |
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 | 3 | 2022 |
Benchmarking of human Y-chromosomal haplogroup classifiers with whole-genome and whole-exome sequence data V García-Olivares, A Muñoz-Barrera, LA Rubio-Rodríguez, D Jáspez, ... Computational and Structural Biotechnology Journal 21, 4613-4618, 2023 | 1 | 2023 |
Benchmarking of bioinformatics tools for the hybrid de novo assembly of human whole-genome sequencing data A Munoz-Barrera, LA Rubio-Rodriguez, D Jaspez, A Corrales, ... bioRxiv, 2024.05. 28.595812, 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 |
Small variant benchmark from a complete assembly of X and Y chromosomes J Wagner, ND Olson, J McDaniel, L Harris, BJ Pinto, D Jaspez, ... bioRxiv, 2023.10. 31.564997, 2023 | | 2023 |
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, ... | | 2023 |
An exome-wide analysis of natural genetic variation in the Canary Islands population A Diaz-de Usera, LA Rubio-Rodriguez, A Munoz-Barrera, B Guillen-Guio, ... EUROPEAN JOURNAL OF HUMAN GENETICS 30 (SUPPL 1), 528-528, 2022 | | 2022 |
A benchmarking of germline small-variant calling from whole human genome and exome sequencing data D Jaspez, A Munoz-Barrera, LA Rubio-Rodriguez, A Inigo-Campos, ... EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 964-964, 2020 | | 2020 |