Article

Detection of structural mosaicism from targeted and whole-genome sequencing data

2016-07-07

Abstract excerpt

<h4>ABSTRACT</h4> 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 testing. Modern disease studies rely heavily on exome sequencing, yet an adequate method for the detection of structural mosaicism usin...

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Literature Corpus work: b3ec15db-d316-5ac6-9ced-b573f9d1358b
DOI: 10.1101/062620

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