4 ms·

A big problem with your site is it links to stuff as if its significant/important/real. Nearly every single variant I followed through on was basically bogus. A

A big problem with your site is it links to stuff as if its significant/important/real. Nearly every single variant I followed through on was basically bogus. An intronic variant with like 50% of the population having it.... Literally doesn't matter how many GWAS studies have associated that with a greater risk of breast cancer. The risk difference by definition is nothing. Its meaningless to state clearly on your site "breast cancer". You might want to avoid ethical/legal grey areas. But who is your site aimed at? It has none of the information a scientist would want, or a clinician would want... But does have misleading absolutist linking of variants with papers and diseases?

subcosmos 9y ago
My site is aimed at people who want to dig deep into the literature. I don't say any of it is significant or real. I say "here's a paper that thinks it's real. Go read it". I can certainly do better to qualify things more clearly. I've been working in genetics for some time and what I have noticed is that all of these markers start as an unjustified signal in GWAS studies with no biological proof. Eventually however, some clever biologists eventually figures out the role of that gene in model organisms, and the locus becomes more confidently verified. Many of the markers for obesity, for example, have been thoroughly vetted now as being significant and having a well explained role in physiology. They show up in the brain centers that regulate metabolism. My mission for that project is to provide links/searches into the literature for educational reasons, so that I can inspire people to pursue careers in science and figure out what the unknown genes actually do. Just because a single SNP variant has a high penetrance in the population and a low overall risk doesn't mean that the gene itself isn't extremely important. Genotype arrays like 23andMe only test a small fraction of the genome. What we are finding is that many of these common variants are co-inherited with rare variants that are the actual sites of functional importance for a trait. So just because a SNP on a genotype array has a low risk, the gene can still be profoundly relevant.

subcosmos 9y ago

My site is aimed at people who want to dig deep into the literature. I don't say any of it is significant or real. I say "here's a paper that thinks it's real. Go read it". I can certainly do better to qualify things more clearly. I've been working in genetics for some time and what I have noticed is that all of these markers start as an unjustified signal in GWAS studies with no biological proof. Eventually however, some clever biologists eventually figures out the role of that gene in model organisms, and the locus becomes more confidently verified. Many of the markers for obesity, for example, have been thoroughly vetted now as being significant and having a well explained role in physiology. They show up in the brain centers that regulate metabolism. My mission for that project is to provide links/searches into the literature for educational reasons, so that I can inspire people to pursue careers in science and figure out what the unknown genes actually do. Just because a single SNP variant has a high penetrance in the population and a low overall risk doesn't mean that the gene itself isn't extremely important. Genotype arrays like 23andMe only test a small fraction of the genome. What we are finding is that many of these common variants are co-inherited with rare variants that are the actual sites of functional importance for a trait. So just because a SNP on a genotype array has a low risk, the gene can still be profoundly relevant.