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Whole Exome

 

In most cases, it is expected that all samples will be collected and phenotyped before applying for the NIH CIDR Program. Possible exceptions should be discussed with CIDR and the NIH supporting institute before applying.

 

Next Generation Sequencing Platform

     Illumina HiSeq sequencers

 

Enrichment Method

     Agilent SureSelect Human All Exon

 

Enrichment Options

     51 Mb
     51 Mb plus 6.8 - 24Mb custom option
     54 Mb Clinical Exome
     71 Mb (includes UTRs)

 

Services Include

 

CNV detection utilizing “counting” methods are also not likely to be highly successful due to the uneven coverage inherent with enrichment chemistry.

 

Options for Formalin-Fixed Paraffin-Embedded (FFPE) derived DNA

CIDR offers sequencing services for specimens that have been formalin-fixed, paraffin-embedded (FFPE). DNA extracted from FFPE samples exhibit a wide variation in sample quality due to the fixation process and storage conditions. CIDR has developed a workflow optimized for FFPE samples a which includes a qPCR quantitation step, reduced DNA input and a DNA repair step.

 

Options for Low Input DNA

A reduced input workflow is available for samples which do not meet standard DNA requirements.

 

 

 


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photo of QC chip

 

QC chip being placed on the Instrument