GeneticsbioRxivPreprint
Incorporating calibrated functional assay data into the BRCA1 Ex-UV database
Bryony A. Thompson, Russell N. Bell, Bryan E. Welm…·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.
DOI 10.1101/079418