Genetic copy number determination using high throughput multiplex sequencing of smashed nucleotides
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United States of America Patent
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Aug 4, 2020
Grant Date -
Jun 1, 2017
app pub date -
Jan 30, 2017
filing date -
Sep 8, 2015
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Abstract
The present invention, SMASH (Short Multiply Aggregated Sequence Homologies), is a technique designed to pack multiple independent mappings into every read. Specifically, the invention relates to a composition comprising a first mixture of different chimeric genomic nucleic acid fragments, wherein each different fragment in the mixture comprises randomly ligated DNA segments, wherein each DNA segment in the fragment is a nucleic acid molecule at least 27 base pairs in length resulting from random fragmentation of a single genome. The invention also relates to methods for generating said composition and use of said composition to obtain genomic information, for example, copy number variation.
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