Detecting genetic aberrations associated with cancer using genomic sequencing
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United States of America Patent
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Apr 14, 2020
Grant Date -
Aug 3, 2017
app pub date -
Mar 30, 2017
filing date -
Jul 23, 2007
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Abstract
Methods, systems, and apparatus determine whether a first chromosomal region exhibits a deletion or an amplification associated with cancer in a sample from a subject (e.g., where the sample includes a mixture of cell-free DNA from tumor cells and non-malignant cells. Nucleic acid molecules of the biological sample are sequenced. Respective amounts of a clinically-relevant chromosomal region and of background chromosomal region(s) are determined from results of the sequencing. A parameter derived from these amounts (e.g. a ratio) is compared to one or more cutoff values, thereby determining a classification of whether first chromosomal region exhibits a deletion or an amplification associated with cancer.
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