NIH R01 · 2024
Computational methods for detecting patterns of complex genomic variation
Project Summary Rearrangements of genomic segments or structural variation (SVs), include changes (increase/decrease) of copy number, inversions, translocations, and other mechanisms that change or rearrange the DNA content of a cell. Complex SVs can mediate many constitutional diseases; highly pathological germline rearrangements can damage the viability of the embryo; and somatic rearrangements can increase the pathology of many diseases, including cancer. The genomic footprint of complex SVs is a changed karyotype, defined by a collection of sequences of oriented genomic intervals whose coordinates are drawn from a reference genome, so that every sequence corresponds to a haploid or…
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