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Book Summary:
The discovery and exploration of complex forms of genomic variation is launching human biology into a new era, and is made possible by powerful new technologies. Of these, the Optical Mapping system offers unprecedented breadth, sensitivity, flexibility, and throughput through the construction of genome-spanning physical maps that reveal intricate and previously inaccessible genomic patterns. Genome-spanning physical maps are produced from ensembles of individual DNA molecules that have been elongated and immobilized to a surface, cleaved in situ with a restriction enzyme, and visualized as optical maps via fluorescence microscopy. Here, the creation and analysis of optical maps are first used to facilitate sequencing efforts of a bacterium, and then characterize haplotypes and repetitive DNA structures in yeast. The experience gained in the first two projects, coupled with new developments in DNA preparation, optical map creation, and analysis enabled the construction of an optical map covering 94% of the human genome, with enough redundancy for the confident identification of 1766 instances of human genomic variation. Subsequent experimental and comparative analyses provided additional validation for these instances of variation, and revealed 1089 unique variants with potential biological impact. This thesis relays the context, processes, and results of the optical mapping of three genomes, which ultimately fostered the identification of a new class of human genomic variation. |
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