A method for the preservation of long-range genomic information during DNA storage and transport.

DESCRIPTION provided by applicant DNA and particularly high molecular weight HMW DNA is known to become fragmented over time even under optimal storage or shipping conditions This is a consequence of inexorable chemical physical and enzymatic processes that occur even under even the most stringent DNA preservation regimes These facts are of renewed and growing concern because in the US alone it is estimated that there are more than half a billion human samples tissue or DNA in storage while the global market for human biospecimens and related services is predicted to grow to $ B in Large scale genome analysis with high quality HMW DNA is imperative to the understanding of human biology and its impact on human health since only HMW DNA retains vital information about linkage and phase Such information is critical to clinical genomics for the understanding and treatment of genetic diseases and cancers In addition to medicine there are clear societal benefits from long term DNA preservation in forensics agriculture environmental studies renewable energy species preservation and many other areas Current DNA stability solutions offer protection against fragmentation but none can prevent it altogether Furthermore with current methods one is forced to choose between effective but costly e g cold storage or affordable but imperfect e g FTA cards approaches Dovetail Genomics is proposing research that will ultimately yield a simple inexpensive and powerfully preservative kit for the stabilization of DN for long term storage or long range transport Crucially the proposed method preserves long range DNA information in spite of the presence of fragmentary DNA damage This feature is completely unique in the domain of DNA preservation The kit may be used alone or in concert with existing methods for DNA stabilization e g cold storage or drying approaches It will be agnostic to the source of DNA so can be flexibly mated to a variety of DNA collection methods from diverse sample sources e g blood saliva or cheek swabs Finally its use will require minimal standard laboratory equipment and very little hands on time These features culminate in a product that will simply and cost effectively extend the range of retrievable genomic information from preserved samples from thousands of nucleotides to millions with a similar improvement to the longevity of such samples in storage Better retention of long range genomic information for DNA in transit removes substantial barriers to worldwide studies of human genetic diversity and its impacts on human health Similarly the protection of long range information in storage ensures high quality genomes for long term human health studies and valuable retrospective repositories for as of yet unimagined studies of human populations and shifts in their genomic underpinnings over time Both of these goals are cornerstones of the nascent but expanding andquot DNA economyandquot and are barriers to the broader adoption of genomic analysis We will demonstrate the retention of long range genomic information with our method and the sufficiency of that information for the reconstruction of high quality human genomes PUBLIC HEALTH RELEVANCE Large scale genome analysis with high quality large fragment DNA is imperative to our understanding of human biology and its impacts on human health particularly with regards to cancers and other genomic diseases Preservation of large pieces of DNA during storage and transit remains a persistent challenge to the genomics community We propose a method that powerfully and inexpensively enables the long term preservation of very large fragments of DNA unlocking ever more powerful analyses and preserving valuable samples for generations to come