Exome sequencing and the genetic basis of complex traits
Figure 1 in a recent Nature Genetics paper useful for LOF — saturation of LoF, essentially something that describes how many LoF variants we see as we keep adding more samples :
http://www.nature.com/ng/journal/v44/n6/full/ng.2303.html
QT:”
Basically, LoF variants are so enriched for ultra-rare variants that they show no sign of saturation, and the catalogue will continue to grow as more and more exomes are sequenced.
“