Métodos estadísticos para evaluar los efectos de las variantes de novo sobre los defectos congénitos.

With the development of next-generation sequencing technology, de nuevo
variants (DNVs) with deleterious effects can be identified and investigated
for their effects on birth defects such as congenital heart disease (enfermedad coronaria).
Sin embargo, 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. Por lo tanto, it is
critical to jointly analyze DNVs with other types of genomic/biological
information to improve statistical power to identify genes associated with
defectos de nacimiento. In this review, we discuss the general workflow, recent
developments in statistical methods, and future directions for DNV
análisis.