Targeted Re-sequencing
Targeted next generation sequencing analysis allows rapid detection of a variety of mutation on single platform. Agiomix offers bioinformatics service for the analysis of targeted sequencing data to identify SNPs/Indels, structural variants and copy number variants. This technique is rapid, cost-effective detection of mutations in genes associated with multigenic disorders. We have pipeline for detecting clinically relevant variants.
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Whole Exome Sequencing
Exomes are the part of the genome formed by exons, or coding regions, which when transcribed and translated become expressed into proteins. Exomes compose only about 2% of the whole genome. Agiomix offers bioinformatics service for the analysis of human exome sequencing data to identify SNPs/Indels, structural variants and copy number variants. Diagnosiss of rare hereditary disease
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