http://rdf.ncbi.nlm.nih.gov/pubchem/patent/EP-3877980-A1

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filingDate 2019-11-07-04:00^^<http://www.w3.org/2001/XMLSchema#date>
inventor http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_ddf486129fbbcb7bfba894577d2a40dc
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publicationDate 2021-09-15-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationNumber EP-3877980-A1
titleOfInvention Enhanced detection of target dna by fragment size analysis
abstract The present invention provides a computer-implemented method for detecting variant nucleic acid from a cell-free nucleic acid- containing sample. The method comprises (a) providing data representing fragment sizes of nucleic acid fragments obtained from said sample and/or representing a measure of deviation from copy number neutrality of the nucleic acid fragments obtained from said sample; b) processing the data from step a) according to a classification algorithm, wherein said classification algorithm operates to classify sample data into one of at least a first class containing the variant nucleic acid and a second class not containing the variant nucleic acid, based on a plurality of cell- free nucleic acid fragment size features and/or a deviation from copy number neutrality feature; and c) outputting the classification of the sample from step b, thereby determining whether the sample contains the variant nucleic acid or not, or a probability that the sample contains the variant nucleic acid. Related methods are also provided.
priorityDate 2018-11-07-04:00^^<http://www.w3.org/2001/XMLSchema#date>
type http://data.epo.org/linked-data/def/patent/Publication

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