Minding the base rate fallacy
In the near future, I’m pretty sure that most pregnancies will begin with a non-invasive genomic analysis (OK, that’s now they will begin, but you get what I’m saying). Far more extensive than what you get now no doubt. But, non-invasive prenatal tests (NIPT) is already ubiquitous for a variety of conditions, in particular, those […]
Tightening the interval of the expected
The Pith: The rarer the genetic variant, the more likely that variant is to be specific to a distinct population. Including information about the distribution of these genetic variants missed in current techniques can increase greatly the precision of …
Of association & evolution
Two of the main avenues of research which I track rather closely in this space are genome-wide association studies (GWAS), which attempt to establish a connection between a trait/disease and particular genetic markers, and inquiries into the evolutionary parameters which shape the structure of variation within the human genome. Often with specific relation to a particular […]
Not the origin of genome complexity
Over the past decade evolutionary geneticist Mike Lynch has been articulating a model of genome complexity which relies on stochastic factors as the primary motive force by which genome size increases. The argument is articulated in a 2003 paper, and further elaborated in his book The Origins of Genome Architecture. There are several moving parts […]