Data Analysis Services
• DNA sequencing data analysis for human samples.
• Variant analysis that includes single nucleotide variations, insertions, deletions, stop gain, stop loss etc.
• Variant annotation in terms of PolyPhen score, SIFT score, FATHMM score, clinical association, allele frequency, gene symbol, exon ID, variant ID, transcript ID etc.
• Copy number changes i.e. gene amplification and deletion events.