评估新生变异对出生缺陷影响的统计方法.

With the development of next-generation sequencing technology, 再次
variants (DNVs) with deleterious effects can be identified and investigated
for their effects on birth defects such as congenital heart disease (冠心病).
然而, statistical power is still limited for such studies because of the
small sample size due to the high cost of recruiting and sequencing samples
and the low occurrence of DNVs. DNV analysis is further complicated by
genetic heterogeneity across diseased individuals. 所以, it is
critical to jointly analyze DNVs with other types of genomic/biological
information to improve statistical power to identify genes associated with
出生缺陷. In this review, we discuss the general workflow, recent
developments in statistical methods, and future directions for DNV
分析.