Is this you? As a journalist, you can create a free Muck Rack account to customize your profile, list your contact preferences, and upload a portfolio of your best work.
Claim your profile
Abstract Predicting the pathogenic effect of rare genetic variants is significantly hampered by the limited cohort of diagnosed patients and the difficulty in functionally evaluating the effect of existing and novel variants. To address this issue, we leveraged a protein Multiplexed Assay of Variants Effect (MAVE) to functionally assess the effect of ~ 2200 missense variants of the TP63 gene, some of which cause autosomal dominant developmental disorders.
HEK293T, MDAMB468, HCC1806 and HDQP1 were obtained from ATCC biobank. HEK293T and HDQP1 cells were cultured with DMEM supplemented with 10% foetal bovine serum (FBS), 1% L-glutamine, 1% penicillin/streptomycin (Euroclone, Milan, Italy), whereas MDAMB468 and HCC1806 cells were cultured with RPMI supplemented with 10% foetal bovine serum (FBS), 1% L-glutamine, 1% penicillin/streptomycin (Euroclone). Cells were kept at 37 °C under 5% CO2 atmosphere.
Thank you for your interest in spreading the word about bioRxiv. NOTE: Your email address is requested solely to identify you as the sender of this article. Your Email * Your Name * Send To * Enter multiple addresses on separate lines or separate them with commas. Message Subject (Your Name) has forwarded a page to you from bioRxiv Message Body (Your Name) thought you would like to see this page from the bioRxiv website.
As a journalist, you can create a free Muck Rack account to customize your profile, list your contact preferences, and upload a portfolio of your best work.
