Accurate understanding and exploration of genetic risk factors: from Mendelian inheritance diseases to genetic predispositions

摘要

Personalized genetic data are becoming more easily available and the population genetics study has entered the 10 thousands human genome era thanks to the popularization and application of high-throughput sequencing and big data analysis techniques. Vast amounts of data accumulation and rapid increase in case-control study have laid a solid foundation for accurately understanding and exploring of genetic risk factors. This article put forward an iceberg model about genetic risk factors and diseases based on the research progress in recent years and the authors' work experience.

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