NGS data management and analysis bioinformatic support

Jnomics (https://www.jnomics.es) is a modular bioinformatics platform that integrates our NGS analytical pipeline (Matseq) and our database of genomic variants (inGeneDB), together with the necessary tools to manage, QC and analyze NGS data. Jnomics optimizes traceability of the different processes of the genomic study, in order to respect turnaround time and meet quality standards.

 

Matseq follows the validation recommendations of the American Molecular Pathology Association (AMP) (Roy et al., 2018), and integrates BWA and Bowtie for aligning the sequence reads to the reference genome (hg38 assembly), GATK and VarDict for variant calling, ExomeDepth for copy number variation (CNV) detection and VEP for variant annotation