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filingDate 2021-08-26-04:00^^<http://www.w3.org/2001/XMLSchema#date>
inventor http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_6ad0cb84139a4a40559a5d37e9e77782
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publicationDate 2022-03-24-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationNumber US-2022090211-A1
titleOfInvention Sample Validation for Cancer Classification
abstract Systems and methods for validating that a DNA sample is from a test subject are disclosed. The test subject reports one or more characteristics (biological sex, ethnicity, and/or age) that may be predicted from the DNA sample. The predictions are compared to the reported characteristics to validate the DNA sample. To validate according to biological sex, the system determines a Y-chromosome signal based on counts of sequence reads for a gene specific to the Y chromosome and, similarly, an X-chromosome signal using another gene specific to the X chromosome. The biological sex is predicted based on a comparison of the two signals. To validate according to ethnicity, the system predicts ethnicity based on detected allele frequencies for SNPs specific to each chromosome. To validate according to age, the system calculates the methylation densities for age-informative CpG sites. The system utilizes trained regression models to predict the age using the methylation densities.
priorityDate 2020-08-28-04:00^^<http://www.w3.org/2001/XMLSchema#date>
type http://data.epo.org/linked-data/def/patent/Publication

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