The phenotype for depletion would be things like embryonic lethality and/or intellectual disability. For many genes the number of LOF variants would be too small to expect many (any?) compound heterozygotes. And for nonsynonymous variants the numbers are still small and interpretation v. difficult.

Love that song so much!

Nope, not really. But whatever.

This raises doubts about the many prior studies using similar data and models to recover in-credible accuracies in very small samples.

Has Torrey literally not read any papers published in the last three years?

Identification of specific genes involved in schizophrenia aetiology – what difference does it make?
www.cambridge.org/core/journal...

Please, please can more people start using Pubpeer - pubpeer.com - to highlight and document problems in the published literature. Future changes will need a body of evidence. "The overarching goal of the Foundation is to improve the quality of scientific research by enabling innovative...."

Yeah, I want to believe it and it's probably true but it's not actually scientific evidence.

Yup, I left. Never used it anyway. Just used to get random emails sometimes.

Yes indeed. My view is that one could start with competent adults. If they consent to have their whole genome sequenced then fair enough. But we shouldn't be doing it on babies who can't consent. And in this context the parents should not be able to consent on their behalf, because no clear benefit.

For sure. And did you notice what drug they used to reverse the effects of SETD1A knockdown? They called it TCP but actually it's good old tranylcypromine!

www.cambridge.org/core/journal...

My Psychiatric Genetics lecture has a fair bit on schizophrenia:

www.davecurtis.net/PsychiatricG...