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filingDate 2020-08-26-04:00^^<http://www.w3.org/2001/XMLSchema#date>
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publicationDate 2021-07-01-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationNumber AU-2020341336-A1
titleOfInvention Methods and systems for diagnosing from whole genome sequencing data
abstract Disclosed herein include systems, devices, computer readable media, and methods for paralog geno typing, such as determining a copy number of survival of motor neuron 1 gene and genotyping cytochrome P450 family 2 subfamily D member 6 gene using a Gaussian mixture model comprising a plurality of Gaussians each representing a different integer copy number.
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