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Services

 

Our high quality sequencing and genotyping services are supported by:

Dedicated project management

 

Depending on access pathway, we include at no additional cost:


All Projects

Sample pretesting with option to resolve problems

 

General Sample Handling Workflow

 

NIH CIDR Program Studies

For whole exome sequencing projects, we pretest all samples using a high-density SNP array (>200,000 markers).  For custom targeted sequencing, we pretest all samples using a 96 SNP GoldenGate assay and 10% using a high-density SNP array (>200,000 markers).  For genotyping, we pretest samples using a 96 SNP GoldenGate assay. This extensive pretesting allows us to unambiguously tie DNA samples to production sequencing or genotyping data and to verify sample quality, gender, family relationships and unexpected duplicates.

 

Investigators have an option to resolve problems found during the pretesting phase. This service is not available for VeraCode custom, focused content arrays or methylation studies.

 

We include bisulfite conversion for methylation studies using the Zymo EZ-96 DNA Methylation™ Kit. Conversion efficiency is generally >99%.

 

Statistical genetics consultation is available to interested investigators. This collaboration must be requested well in advance. Appropriate letters of commitment will also be required. These services are not available for methylation or mouse studies.

 

 

Johns Hopkins GRCF Fee-For-Service Options

Genotyping

Sample pretesting is not included for SNP Center studies except for GWAS studies larger than 94 samples. For these studies we pretest samples using a 96 SNP GoldenGate assay to unambiguously tie DNA sample to production genotyping data and to verify sample quality, gender, family relationships and unexpected duplicates. Investigators have an option to resolve problems.

 

Sequencing

Sequencing studies through our fee-for-service mechanism receive sample pretesting.  For whole exome sequencing projects, we pretest all samples using a high-density SNP array (>200,000 markers).  For custom targeted sequencing, we pretest all samples using a 96 SNP GoldenGate assay and 10% using a high-density SNP array (>200,000 markers). 

 

 


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photo of lab management staff

 

Lab Management Staff (Left to Right) Nina DiFabion, Marie Hurley, Alysen Robinson, Michelle Mawhinney, Lindsay Cole, Jane Romm, Kim Doheny, Chrissie Ongaco and Jessica Coppersmith