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 available by request

Targeted Genome SequencingTargeted
Loop Genomics and Others

  • Targeted Panels from Illumina, Roche and Agilent
  • Amplicon Sequencing
  • Loop 16S Metagenomics

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

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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