Detection of structural mosaicism from targeted and whole-genome sequencing data.
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DOI: 10.1101/gr.212373.116
Abstract: Structural mosaic abnormalities are large post-zygotic mutations present in a subset of cells and have been implicated in developmental disorders and cancer. Such mutations have been conventionally assessed in clinical diagnostics using cytogenetic or microarray… read more here.
Keywords: detection; sequencing data; whole genome; detection structural ... See more keywords