Systems and methods for detecting structural variants
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United States of America Patent
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Apr 24, 2018
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app pub date -
Oct 1, 2014
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Oct 1, 2013
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Abstract
Systems and method for identifying long deletions can obtain sequencing information for a plurality of amplicons in and around a potential region from a nucleic acid sample. The sequencing information can include a plurality of reads that can be mapped to a reference sequence. Using information, such as where reads map to a reference sequence and relative abundance of reads for the amplicons, structural variants can be identified and a determination can be made if the nucleic acid sample is homozygous or heterozygous for the structural variant.
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