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Whole Genome Sequencing

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Whole Genome Sequencing (WGS) provides complete information on genetic makeup of organisms, enabling researchers to study variations within the species and compare them with others which can help in solving unanswered puzzles in the genomics and providing fuel for research for biomarker discovery and personalized medicine.

WGS can reveal germline variation, somatic variation, copy number variation, changes in transposable elements, and structural variants.

Whole Genome Sequencing Process

Every sample is precious, and data integrity is paramount. We communicate with our customers at every stage of the sequencing process, to ensure that they receive the maximum value out of every sample.

We also recognize that the value our customers get is not in the sequencing alone; it’s the technologies within the sequencing. MedGenome is one of the few genomics research companies that provides turnkey solutions to our customers, offering robust bioinformatics services alongside NGS sequencing.

SAMPLE REQUIREMENTS
  DNA RNA
CELLS Minimum 1e+6 cells required. Cells should be shipped in dry ice Minimum 1e+6 cells required. Cells should be frozen and pelleted and shipped in dry ice
TISSUE 30 mg of fresh or frozen tissue or 20 mg of stabilized tissue. The tissue should be immersed in Liq N2 and shipped in dry ice or should be immersed in RNAlater RNA Stabilization Reagent or All protect Tissue Reagent 30 mg of fresh or frozen tissue or 20 mg of stabilized tissue. The tissue should be immersed in Liq N2 and shipped in dry ice or should be immersed in RNAlater RNA Stabilization Reagent or All protect Tissue Reagent
FFPE 5 slides with 10um thick tissues and surface area of 250 mm2 8 slides with 10um thick tissues and surface area of 250 mm2
BLOCK Sufficient thickness to generate the optimal number of slides as required in FFPE row  
Whole genome sequencing 100 ng  
Whole exome sequencing 100 ng  
RNA sequencing   0.2 ug of high quality RNA (RIN>8) or 1ug RNA (RIN<8)
RNA-TruSeq access libraries / Libraries from ffpe rna   10 ng of high quality RNA (RIN>8) or 50ng RNA (RIN<5)
Truseq standed mrna library   100 ng high quality RNA (RIN>8) or 1ug RNA with RIN between 5 and 8.
Genome in a Bottle validation results for WGS & WES
Sample name analysis type variant type accuracy precision analytical sensitivity analytical specificity
Asian son (NA24631) WGS SNP 99.9972% 99.9972% 98.3605% 99.9993%
Asian son (NA24631) WGS INDEL 99.9990% 97.2113% 95.9767% 99.9996%
Asian son (NA24631) WES SNP 99.9987% 99.4271% 98.9305% 99.9996%
Asian son (NA24631) WES INDEL 99.9996% 97.4525% 94.9458% 99.9999%
Utah female (NA12878) WGS SNP 99.9986% 99.5894% 99.2871% 99.9995%
Utah female (NA12878) WGS INDEL 99.9991% 97.6290% 96.7742% 99.9996%
Utah female (NA12878) WES SNP 99.9990% 99.3678% 99.3030% 99.9995%
Utah female (NA12878) WES INDEL 99.9995% 93.7846% 96.4536% 99.9997%