Lots of gene variant studies don’t actually perform the functional genomics we see in the study here to confirm if they’re pathogenic or not.

Unfortunately with how science is performed, studying variants can take time and they likely only publish data if the functional genomic experiments are fruitful rather than negative or undetermined.

Luckily, new screening methods that can evaluate thousands of variants concurrently are being developed, they just need to be applied to this area of research and we’ll gather so much more data.