reduced penetrance|COPE-PCG

Biomedical Big Data

Case study

By the Human genome project after proposed, the proposed precision medicine. Its original intention is to data standard after easy application, focusing on China's important early warning and efficacy evaluation of disease.

In the case of disease, including early warning of newborn screening and detection of oncogenes, Angelina Jolie made an early diagnosis of breast cancer and the risk of removing the promoters. But because early diagnosis still has a high false positive rate, so the judge to make a cut or there is a big risk (not really afraid, afraid to do is fake). One reason for its high false positive rate is not necessarily a mutation phenotype, so our approach is reduced penetrance . Mendelian disease mostly associated with the development, so with biological experiments difficult to interpret. We found a gene combined effect of the angle (between the components of the cell; Gene between; between passage), so that the principle of the combined effect of the correction based on a portion of the phenotype annotation, the COPE-PCG is a series of software.

 

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Origin www.cnblogs.com/yuanjingnan/p/11570147.html