Dynamic genome reference generation for improved NGS accuracy and reproducibility
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United States of America Patent
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Jul 4, 2017
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Feb 24, 2015
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Feb 24, 2014
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Abstract
A “dynamic” reference is presented that utilizes population level information to improve reference-based alignment to detect novel, deleterious, or functional variants in clinical sequencing applications. An automatically updated database of known genetic variants is provided to a memory connected with an integrated circuit configured for genetic sequence data with the dynamic reference and reference variants.
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