Our services

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.

Variant annotation

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.

Genotype-Phenotype correlation

We perform a variant prioritization for each sample based on predicted variant consequences and patient's phenotype.

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