Chirality is a geometric property describing any object that is inequivalent to a mirror image of itself. Due to its 5’-3’ directionality, a DNA sequence is distinct from an exact copy arranged in reverse sequence order, and is therefore chiral. A DNA sequence and its chiral partner sequence share many attributes, such as nucleotide composition and sequence entropy. Here we demonstrate that chiral sequence pairs also perform equivalently during bimolecular processes and bioinformatic analysis. We establish equivalence between chiral pairs of DNA sequences during many of the techniques that underpin genetic analysis, including PCR amplification, hybridization, whole genome, target-enriched and nanopore sequencing, sequence alignment and variant identification. Given these shared properties, we have developed synthetic chiral DNA reference standards that directly mirror clinically relevant regions of the human genome, disease-causing mutations and/or analytically challenging features. We show how these chiral sequences can act as commutable internal controls to measure and improve diagnostic performance during genome analysis, and improve variant interpretation for precision medicine.
Chirality is a geometric property describing any object that is inequivalent to a mirror image of itself. Due to its 5’-3’ directionality, a DNA sequence is distinct from an exact copy arranged in reverse sequence order, and is therefore chiral. A DNA sequence and its chiral partner sequence share many attributes, such as nucleotide composition and sequence entropy. Here we demonstrate that chiral sequence pairs also perform equivalently during bimolecular processes and bioinformatic analysis. We establish equivalence between chiral pairs of DNA sequences during many of the techniques that underpin genetic analysis, including PCR amplification, hybridization, whole genome, target-enriched and nanopore sequencing, sequence alignment and variant identification. Given these shared properties, we have developed synthetic chiral DNA reference standards that directly mirror clinically relevant regions of the human genome, disease-causing mutations and/or analytically challenging features. We show how these chiral sequences can act as commutable internal controls to measure and improve diagnostic performance during genome analysis, and improve variant interpretation for precision medicine.
2B9 - Building 2 GSA2018_APCC6 GSACC62018@canberra.edu.au
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