Whole Genome Sequencing
WGS provides the most unbiased and comprehensive, albeit expensive view of the genome and is adept at discovering a plethora of genetic variation including SNPs, indels, CNVs and structural variations. With the first and only HiSeq X Ten in South East Asia at MedGenome, researchers are empowered to receive the most accurate and comparatively economical human whole genome at 30X and 10 X sequencing depth for mapping genetic discoveries.
Exome sequencing inspects <2% of the expressed genome, is cost effective, but only detects SNPs and indels. We offer clinical and whole exome services using a variety of capture methods, including Agilent SureSelect, NimbleGen SeqCap and KAPA HyperPrep capture.
The Agilent SureSelect panel in particular covers the UTR region along with the exomes. We deliver the variants for the exomes as annotations for the clinically relevant mutations using published variants in literature and a set of diseases databases – ClinVar, OMIM, GWAS, HGMD and SwissVar. Common variants are filtered based on allele frequency in 1000 Genome Phase 3, ExAC, gnomAD, EVS, dbSNP, 1000 Japanese Genome and our internal Indian population database. We also perform the trios analysis where in the variants will be filtered to screen for de novo mutations in a family trio
Custom DNA Sequencing
This NGS application requires prior knowledge of the region of interest, provides actionable variant information, and is minimally expensive. Researchers may choose from our rich repertoire of ready-to-order panels, including single gene tests, disease panels and investigational tests, spanning several specialties including oncology, cardiology, immunology, haematology, metabolic disorders, ophthalmology, neurology, nephrology, paediatrics, endocrinology, dermatology, ENT, and pre-natal. Moreover, we can also custom design primer or probe set to capture genomics coordinates of choice.
The highly polymorphic HLA loci is known to influence susceptibility to numerous diseases including complex auto-immune and inflammatory diseases. We offer the analysis of 6 loci HLA genes, HLA-A, -B, -C in the class I region and HLA–DQB1 & DRB1 in the class II region,. We have strong expertise herein, having delivered HLA sequencing projects to both basic and translational researchers.
Metagenomics yields the ability to study complex microbial communities obviating the need for culturing. We have successfully completed several projects in academia and applied markets for both 16S rRNA (V3-V4) based microbial taxonomic classification and whole genome metagenomics for pathway dissection with functional gene groupings..
Analysis of mutations by mitochondrial sequencing enables the study of associated inherited disorders. We offer to detect both common and rare mutations for the mitochondrial genome and heteroplasmy characterization.