The Blacklist (BL) Server

Blacklisting Non-Pathogenic Variants in Human Exomes.

Link to the main BL project webpage

Filter blacklisted variants via a file provided by user

Variant input format (in reference genome assembly GRCh37/hg19): "chromosome position ID reference_allele alternative_allele"

In other words, the first 5 columns of the VCF file (VCF format)

Select a file to upload;

Download the blacklists cited in the paper or the software:

Choose the Blacklist or ReFiNE:

Citation

Patrick Maffucci*, Benedetta Bigio*, Franck Rapaport, Aurelie Cobat, Alessandro Borghesi, Marie Lopez, Etienne Patin, Alexandre Bolze, Lei Shang, Matthieu Bendavid, Eric M. Scott, Peter D. Stenson, Charlotte Cunningham-Rundles, David N. Cooper, Joseph G. Gleeson, Jacques Fellay, Lluis Quintana-Murci, Jean-Laurent Casanova, Laurent Abel, Bertrand Boisson#, and Yuval Itan#. Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis. In Press

Terms of Usage

The BL method and server are freely available for all non-commercial users

Contact

In case of problems or questions, please e-mail Benedetta Bigio at bbigio@rockefeller.edu or Patrick Maffucci at patrick.maffucci@icahn.mssm.edu


The Rockefeller University

St. Giles Laboratory of Human Genetics of Infectious Disease