Export 11 results:
Author Title Type [ Year
] Filters: Author is Joaquín Dopazo and Keyword is NGS [Clear All Filters]
. A new parallel pipeline for DNA methylation analysis of long reads datasets. BMC bioinformatics. 2017;18:161. doi:10.1186/s12859-017-1574-3.
267 Spanish exomes reveal population-specific differences in disease-related genetic variation. Molecular biology and evolution. 2016. doi:10.1093/molbev/msw005.
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.
. 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.
Combining tumor genome simulation with crowdsourcing to benchmark somatic single-nucleotide-variant detection. Nature methods. 2015. doi:10.1038/nmeth.3407.
Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung disease. Scientific reports. 2015;5:16473. doi:10.1038/srep16473.
. A Parallel and Sensitive Software Tool for Methylation Analysis on Multicore Platforms. Bioinformatics (Oxford, England). 2015;31:3130-3138. doi:10.1093/bioinformatics/btv357.
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 New Overgrowth Syndrome is Due to Mutations in RNF125. Human mutation. 2014;35:1436–1441. doi:10.1002/humu.22689.
Genome Maps, a new generation genome browser. Nucleic acids research. 2013;41:W41-W46. doi:10.1093/nar/gkt530.
Qualimap: evaluating next-generation sequencing alignment data. Bioinformatics (Oxford, England). 2012;28:2678-9. doi:10.1093/bioinformatics/bts503.