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.
Solutions for cells, blood, tissues, FFPE with varying quality and quantity inputs
Illumina and Kapa Solutions
Agilent, Kapa and IDT Solutions
Illumina and Others
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
Circos plots for SNPs,
Indels, CNVs and SV
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.