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