IDENTIFICATION OF SOMATIC MUTATIONS VERSUS GERMLINE VARIANTS FOR CELL-FREE DNA VARIANT CALLING APPLICATIONS
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United States of America Patent
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Mar 2, 2017
app pub date -
Sep 1, 2016
filing date -
Sep 2, 2015
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The present disclosure provides systems and methods to detect somatic or germline variants by providing a predetermined genomic DNA (gDNA) to an assay mixture, and capturing a sample of a subject's genetic information using a DNA sequencer and detecting genetic variants from the genetic information. A mutation may then be classified as being from a germline source if gDNA derived molecules have lengths inconsistent with those expected from cell-free DNA (cfDNA) derived molecules.
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