A dairy calf DNA biobank for the discovery of new recessive genetic disorders John B. Cole Animal Genomics & Improvement Laboratory, Agricultural Research.

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A dairy calf DNA biobank for the discovery of new recessive genetic disorders John B. Cole Animal Genomics & Improvement Laboratory, Agricultural Research Service, USDA, Beltsville, MD 20705-2350 Abstract 169 ABSTRACT High-density SNP genotypes have recently been used to identify a number of novel recessive mutations that adversely affect fertility in dairy cattle, but the lack of standardized procedures for collecting DNA samples and supporting information for those projects underscores the need for a standardized process. The new Dairy Calf DNA BioBank in Beltsville, MD, is a repository for the collection and storage of samples. It complements the automated process of searching for new haplotypes that is part of the national dairy genetic evaluation system. The goal is to collect whole blood from calves that are born dead or that die shortly after birth, particularly if the calf appears to suffer from a congenital defect, as well as DNA from dam and siblings in the herd. Kits that include all sampling materials, return shipping, a material transfer agreement, and a protocol for sample collection are shipped after a request through the website. DNA providers are also able to provide substantial descriptive information about the calves for which they're providing blood. When the samples are received in Beltsville, the DNA is extracted and stored pending future analysis. The material transfer agreement ensures that a clear chain of permission is available for each sample. If a pattern suggests a new recessive genetic disorder within a family, the DNA is available for sequencing and causal variant discovery. Standardized protocols for DNA extraction and whole-genome sequencing will help ensure that data are of high quality. Information on carrier status for new recessives will be distributed through the Council on Dairy Cattle Breeding (Bowie, MD). The URL for the BioBank website is https://aipl.arsusda.gov/BioBank/. INTRODUCTION High-density SNP genotypes recently have been used to identify novel recessive mutations that adversely affect dairy cattle fertility Procedures for collecting DNA samples and supporting information have not been standardized for those projects OBJECTIVE Establish a repository for the collection and storage of samples to support discovery of genetic disorders MATERIALS & METHODS Collection Whole blood from calves born dead or that die shortly after birth (particularly if calf suffers from a congenital defect) DNA from calf’s dam and a sibling in the herd Sampling kits Sampling materials Return shipping Material transfer agreement (MTA) Protocol for sample collection Website (https://aipl.arsusda.gov/BioBank/) Requests for sampling kits Calf descriptions DNA extraction and storage at Henry A. Wallace Beltsville Agricultural Research Center (Beltsville, MD) RESULTS BioBank complements automated process of searching for new haplotypes through national dairy genetic evaluation system MTA ensures a clear chain of permissions is available for each sample If new recessive genetic disorder suggested within a family, DNA is available for sequencing and causal variant discovery Information on carrier status for new recessives distributed though Council on Dairy Cattle Breeding (Bowie, MD) RESULTS (continued) CONCLUSIONS Dairy Calf DNA BioBank established at USDA’s Henry A. Wallace Beltsville Agricultural Research Center in Beltsville, MD Standardized protocols for DNA extraction and whole-genome sequencing help ensure high-quality data for causal variant discovery ASAS annual meeting, Baltimore, MD – July 10, 2017