Center for Inherited Disease Research

General Application & Access Information
for
Mouse Custom SNP Genotyping

All investigators requesting access to the CIDR genotyping facility must prepare an application to be evaluated by the CIDR Access Committee ( CAC) and the Board of Governors (BOG). The CAC is a standing NIH committee comprised of scientists who have expertise in gene mapping and genetic dissection of complex diseases. The CAC evaluates an application for the likelihood that custom SNP genotyping will narrow one or more linkage signals and/or identify one or more variants contributing to the trait.

The BOG is comprised of the Directors of the thirteen supporting institutes or their designees. The BOG meets the month after the meeting of the CAC and makes the final decision about which projects are accepted for genotyping. This decision is based primarily on the CAC's recommendation, but the BOG's assessment of the significance of the project and the genotyping capacity of CIDR will also be factors. The BOG, in consultation with the CIDR Principal Investigator and the Genotyping Lab Director, sets the queue for projects entering CIDR.

Extramural NIH grantees supported by a participating institute require prior approval from the institute liaison before submitting an application to CIDR. Intramural NIH investigators should contact Dr. Camilla Day before preparing an application.

Investigators planning to fine map linkage peak/association signal are expected to have already collected the samples as they will need to provide data from prior genome scans of the samples to justify custom SNP genotyping. In the case of SNP fine mapping in mice, the investigator may request the follow-up fine mapping at the same time as the initial Linkage Scan Application. There may be other study designs where investigators are not required to have all the samples collected before applying to CIDR. Investigators who plan to apply for NIH funding in order to initiate such projects can apply for access to CIDR before submitting an NIH grant application. If access to CIDR is granted, the investigator will receive a letter verifying CIDR's commitment to perform the genotyping. See Application Deadlines for guidance about the timing of submission. All investigators will receive feedback from the CAC that details the basis for its recommendation. Prior to writing an application, applicants planning to apply to CIDR before all samples have been collected should contact Dr. Camilla Day to discuss the study design.

The primary criterion used by the CAC is the likelihood that the project will narrow a linkage region and/or identify the variant(s) contributing to the trait. Since projects granted access to CIDR might exceed the genotyping capabilities of the Center, the BOG will prioritize the successful projects. In reaching these decisions, the CAC will evaluate each of the following:

  • Approximate number of samples and whether the project requires a large-capacity genotyping facility
  • Appropriateness of the investigator's study design including the quality and completeness of the phenotyping
  • Significance and complexity of the disorder/trait
  • Strength of the genetic effect, e.g., the strength of the linkage/association signal(s) from previous genome-wide screens; e.g. the strength of an association between the trait and one or more genetic markers.
  • For genome-wide candidate gene studies, the rationale for candidate gene selection and prioritization including the use of appropriate data resources for identifying those genes
  • Appropriateness of the number of SNPs requested to be typed. The investigator's rationale and justification for SNP selection and his/her use of appropriate data resources for identifying the SNPs to be typed
  • Ability of the investigator to manage the large amount of data that is generated by large genotyping projects
  • Appropriateness of the proposed analytical methods, including software to be used, and the ability of the investigator(s) to apply them
  • Appropriateness of the study population and availability of adequate numbers of subjects
  • Plans for follow-up studies after the SNP genotyping has been completed



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