Incorporating calibrated functional assay data into the BRCA1 Ex-UV database
Bryony A. Thompson, Russell N. Bell, Bryan E. Welm, John Burn, Sean V. Tavtigian
The paper integrates functional assay data with sequence analysis to improve BRCA1 variant classification, adding 146 variants to the Ex-UV database.
bioRxiv · Dec 13, 2016 · PreprintGenetics