3 ms·
That's a great summary, but I'll add one point. You could argue (and many people do) that strong genetic correlation (of one gene / mutation with disease) paire
by aaavl2821 9y ago
That's a great summary, but I'll add one point. You could argue (and many people do) that strong genetic correlation (of one gene / mutation with disease) paired with in vitro / animal elucidation of causation is the second highest "level of evidence", second only to clinical trials. This is the core thesis of "precision medicine" and has radically improved success rates of science, drugs and startups
One of the most widely used methods of "target validation" (determining a molecules / genes causal role in disease) is the knockout mouse model. Basically delete the gene of interest in the mouse and see what happens. This is great for determining causality if a gene. However, mice are different than humans.
Genomics allows us to observe "human knockouts / knockins ". This provides very strong evidence that a gene is implicated in disease. Apoe4 is an example, but the canonical example is pcsk9