Babelomics 5.0: functional interpretation for new generations of genomic data. Nucleic acids research. 2015;43:W117-W121. doi:10.1093/nar/gkv384.
A map of human microRNA variation uncovers unexpectedly high levels of variability. Genome medicine. 2012;4:62. doi:10.1186/gm363.
267 Spanish exomes reveal population-specific differences in disease-related genetic variation. Molecular biology and evolution. 2016. doi:10.1093/molbev/msw005.
Combining tumor genome simulation with crowdsourcing to benchmark somatic single-nucleotide-variant detection. Nature methods. 2015. doi:10.1038/nmeth.3407.
Qualimap: evaluating next-generation sequencing alignment data. Bioinformatics (Oxford, England). 2012;28:2678-9. doi:10.1093/bioinformatics/bts503.
Assessing the impact of mutations found in next generation sequencing data over human signaling pathways. Nucleic acids research. 2015;43:W270-W275. doi:10.1093/nar/gkv349.
. Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy. The Journal of molecular diagnostics : JMD. 2016. doi:10.1016/j.jmoldx.2015.10.005.
Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung disease. Scientific reports. 2015;5:16473. doi:10.1038/srep16473.
Concurrent and Accurate Short Read Mapping on Multicore Processors. IEEE/ACM transactions on computational biology and bioinformatics / IEEE, ACM. 2015;12:995-1007. doi:10.1109/TCBB.2015.2392077.
Genome Maps, a new generation genome browser. Nucleic acids research. 2013;41:W41-W46. doi:10.1093/nar/gkt530.
Initial genomics of the human nucleolus. PLoS genetics. 2010;6:e1000889. doi:10.1371/journal.pgen.1000889.
A new parallel pipeline for DNA methylation analysis of long reads datasets. BMC bioinformatics. 2017;18:161. doi:10.1186/s12859-017-1574-3.
. A comprehensive assessment of RNA-seq accuracy, reproducibility and information content by the Sequencing Quality Control Consortium. Nature biotechnology. 2014;32:903–914. doi:10.1038/nbt.2957.
Acceleration of short and long DNA read mapping without loss of accuracy using suffix array. Bioinformatics (Oxford, England). 2014;30:3396-3398. doi:10.1093/bioinformatics/btu553.
A Parallel and Sensitive Software Tool for Methylation Analysis on Multicore Platforms. Bioinformatics (Oxford, England). 2015;31:3130-3138. doi:10.1093/bioinformatics/btv357.
. HPG pore: an efficient and scalable framework for nanopore sequencing data. BMC bioinformatics. 2016;17:107. doi:10.1186/s12859-016-0966-0.
. A New Overgrowth Syndrome is Due to Mutations in RNF125. Human mutation. 2014;35:1436–1441. doi:10.1002/humu.22689.
Using GPUs for the Exact Alignment of Short-read Genetic Sequences by Means of the Burrows–Wheeler Transform. IEEE/ACM transactions on computational biology and bioinformatics / IEEE, ACM. 2012;9:1245-1256. doi:10.1109/TCBB.2012.49.