Charles Bronfman Institute for Personalized Medicine and Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; email:
Annu Rev Genomics Hum Genet. 2018 Aug 31;19:289-301. doi: 10.1146/annurev-genom-083117-021136. Epub 2018 Apr 11.
While sequence-based genetic tests have long been available for specific loci, especially for Mendelian disease, the rapidly falling costs of genome-wide genotyping arrays, whole-exome sequencing, and whole-genome sequencing are moving us toward a future where full genomic information might inform the prognosis and treatment of a variety of diseases, including complex disease. Similarly, the availability of large populations with full genomic information has enabled new insights about the etiology and genetic architecture of complex disease. Insights from the latest generation of genomic studies suggest that our categorization of diseases as complex may conceal a wide spectrum of genetic architectures and causal mechanisms that ranges from Mendelian forms of complex disease to complex regulatory structures underlying Mendelian disease. Here, we review these insights, along with advances in the prediction of disease risk and outcomes from full genomic information.
虽然基于序列的基因测试早已可用于特定基因座，尤其是孟德尔疾病，但全基因组基因分型阵列、外显子组测序和全基因组测序成本的迅速下降，正使我们朝着一个未来发展，即全面的基因组信息可能会为各种疾病（包括复杂疾病）的预后和治疗提供信息。同样，具有完整基因组信息的大量人群的可用性使我们对复杂疾病的病因和遗传结构有了新的认识。最新一代基因组研究的结果表明，我们将疾病归类为复杂可能掩盖了广泛的遗传结构和因果机制，从复杂疾病的孟德尔形式到孟德尔疾病背后复杂的调节结构。在这里，我们回顾了这些见解，以及从全基因组信息预测疾病风险和结果的进展。
