3) In 2018, Castel et al. found that cis-regulatory variation modifies penetrance of rare coding variants in the general population, in cancer and in autism. https://t.co/K2hXVbtFus
So far, Altmetric has seen
539 X posts from 477 X users, with an upper bound of 2,274,171 followers.
704 followers
704 followers
3) In 2018, Castel et al. found that cis-regulatory variation modifies penetrance of rare coding variants in the general population, in cancer and in autism. (4/12) https://t.co/K2hXVbtFus
619 followers
However, this study failed to prove a model that I used to like very much about mechanisms underlying the penetrance of disease causing alleles https://t.co/RygIKdCwsH
17,877 followers
Finally, here the authors test the hypothesis, put forward by Castel et al, that cis-eQTLs could modify the penetrance of LOF variants and explain the variable phenotypic expression. https://t.co/cZv8OLKwfR