Denovo Sequencing

Genomic Research

Whole Genome and Exome Sequencing applications have been widely accepted for use in genome wide association studies for complex diseases, variant calling to identify clinically actionable mutations and other specialized areas like identification of mutations that accumulate and give rise of tumor neo-antigens and shared antigens. At MedGenome, we routinely perform Whole Genome Sequencing and Exome Sequencing and analyses using best practices.

Discover Your Application

Solutions for cells, blood, tissues, FFPE with varying quality and quantity inputs

DNA Helix, NGSWhole Genome
Illumina and Kapa Solutions

  • Illumina DNA Prep
  • Illumina and Kapa PCR-Free Prep
  • Nextera XT DNA Library Prep
  • Kapa HyperPrep

Denovo Genome AssemblyWhole Exome
Agilent, Kapa and IDT Solutions

  • Agilent SureSelect - Human and Mouse
  • Kapa HyperExome
  • IDT and other kits avilable by request

Targeted Genome SequencingTargeted
Illumina and Others

  • Illumina TSO 500 & TST 170 Panels
  • Off the shelf and custom targeted panels from Roche, IDT, Agilent, Swift and others

Service Highlights

  • Support with experimental design and selection of appropriate workflow dependent on analysis needs
  • Experienced in processing a wide range of sample types with options for low input and degraded samples
  • End-to-end solutions for extraction, sample QC, library preparation, sequencing and bioinformatics analysis
  • Advanced analysis offering includes custom visuals and publication ready figures for improved data interpretation


BioFX Genome Analysis

  • Streamlined pipeline for fast & scalable analysis
  • Customized reporting
  • Interactive reports
  • Publication-ready figures
  • Improve data interpretation with support from MedGenome's team of experts


Explore Analysis Reports

BioFX’s genome analysis platform was built using state-of-the-art analysis tools for germline, low-frequency somatic variant analysis and annotation as well as structural variant, copy number variant analysis and annotation. We offer prebuilt and custom workflows to meet all analysis goals

Detailed data quality,
alignment and coverage stats

Distribution of
base changes
for SNVs

Circos plots for SNPs,
Indels, CNVs and SV
representation for
selected genes

Lollipop plots
showing variants
for genes

mutation signatures


Ordering and Data Delivery

MedGenome's customer portal allows for easy sample submission and sample tracking during lab processing. Data QC, raw data and interactive analysis reports are delivered securely through customer portal.


White Papers and Technical Resources

MedGenome Inc. Services with Illumina’s TruSight Oncology 500 (TSO 500)

Illumina’s TSO 500 is a comprehensive assay that enables comprehensive genomic profiling of tumor samples. It is a single workflow identifying DNA and RNA variants from the same sample. It can detect InDels, SNVs, CNV, fusions and splice variants. It also measures biomarkers like Tumor Mutational Burden (TMB) and Microsatellite Instability (MSI) using limited sample input. MedGenome uses propriety analysis pipeline along with Illumina’s Basespace platform to analyze data providing high sensitivity and specificity to provide a comprehensive cancer genomic profile.

Denovo Genome Assembly Solutions at MedGenome

This Whitepaper explores MedGenome's experience in genomics technologies for developing a comprehensive, customizable, high-quality genome assembly and annotation service.

MedGenome Inc. Broadens NGS offerings with Loop Genomics Metagenomics Service

The whitepaper discusses how MedGenome utilizes Loop Genomics technology for 16S long-read sequencing. This workflow covers the entire V1-V9 regions in a single read, classified at the species or genus level, with zero false-positive assignments

Whole-genome Sequencing/Whole-exome QC Report

In this QC report, we show representative sample QC, sequencing QC and mapping metrics that will be provided to the customer for whole genome/exome from genomic DNA isolated from cells, fresh-frozen and FFPE tissue types.


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