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NGS Bioinformatic Solutions

NGS Services
MedGenome offers advanced NGS bioinformatics services to advance our clients’ NGS data interpretation needs. Our dedicated teams of biologists, data curators, bioinformaticians and statisticians work closely with customers to analyze and interpret large-scale genomics data.

We offer end-to-end data analysis of next-generation genomics data, using MedGenome Developed interpretation tools and well accepted tools in the NGS community that have been further optimized by us.

MedGenome provides the utmost care and due attention to each step of the data analysis process, including:

  • Data quality assessment
  • Comprehensive custom analysis based on client requirements
  • Interpretation of results for biological insights
  • Presentation of results in meaningful, easily understood and clear report formats

Our automated bioinformatics pipelines and programs analyze large-scale biological data sets with special emphasis on high volume NGS data. We optimize all parameters to ensure fast on-time delivery of finished projects, without sacrificing data accuracy or quality.

Our bioinformatics pipeline for WGS and WES strictly adheres to the gold standard set by Genome in a Bottle Consortium (GiAB), who have created reference genotypes with truth values for single nucleotide polymorphisms (SNPs) and insertions/ deletions (Indels). The pipeline uses GATK best practices for germline variant calling, and we capture several quality metrics during the analysis to deliver the best quality results.

Expertise Spanning Multiple Types of Data Sources, Data Types and Disease Areas

sample source data type disease areas
Mouse Whole Genome Oncology
Primate Whole Exome Neurology
Microbiome ChipSeq Cardiovascular
Human MethylSeq Diabetes
miRNA Ophthalmology
Rare diseases

MedGenome Developed Tools / Databases Integrate Seamlessly with Standard Public Tools / Algorithms for Bioinformatics Data Analyses

Tools Annotations
Medgenome Developed Tools MedGenome Developed databases
VariMAT – Deep Variant Annotation OncoMD – Oncology Analytics Platform
VariMiner – Variant Interpretation & Reporting MedVarDb – Mendelian Variant Database
OncoPept – Immuno-Oncology Platform
Commercial Tools Public Databases
ImmuneSeq 1000 Genome DbSNP COSMIC
Commercial databases

End-to-End Variant Calling and Interpretation, for High Quality Analysis And Results – Quickly


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