发明名称 METHOD AND SYSTEM FOR ESTIMATING GENOMIC HEALTH
摘要 Techniques for estimating genomic health of a sexually reproducing organism. Stored information on hereditary diseases is used to determine (2-12) a risk for each disease for allele combinations in a specimen, and to determine (2-14) a degree of severity, wherein the risk and severity are commensurate (2-16). For each hereditary disease a risk is determined (2-22) for the specimen to have the disease from the from the specimen's genotype; a default risk is assigned (2-24), if the hereditary disease exhibits Mendelian inheritance and if the specimen is a carrier of the disease. The risk for the hereditary disease is multiplied (2- 26) by an expansive function (eg square) of the severity. A statistically representative value of the multiplied risks is calculated (2-28), replacing zero values with marginal finite values if the expansive function cannot process zero values.
申请公布号 WO2015063376(A1) 申请公布日期 2015.05.07
申请号 WO2014FI50828 申请日期 2014.11.04
申请人 MEDISAPIENS OY 发明人 OJALA, KALLE;KILPINEN, SAMI
分类号 G06F19/10;C12Q1/68 主分类号 G06F19/10
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