Next Generation Sequencing
Quality control and pre-processing
We perform pre-processing of the raw files and audit the quality of sequencing data at every stage of the pipeline.
We process VCF files with Variant Effect Predictor applying commonly used and user-defined annotations.
Alignment to reference genome
We align sequencing reads to the reference genome (hg19 or hg38) and perform BAM post-processing.
We perform a variant prioritization for each sample based on predicted variant consequences and patient's phenotype.