exomiser / Exomiser

A Tool to Annotate and Prioritize Exome Variants
https://exomiser.readthedocs.io
GNU Affero General Public License v3.0
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Add GeneBlacklistFilter to remove common false-positives #457

Closed julesjacobsen closed 1 year ago

julesjacobsen commented 1 year ago
  • Blacklisted genes are not included for some filters to reduce the noise level. These are 56 pseudogenes, HLA genes, and others that have a high degree of variants called in healthy individuals:

COL4A2-AS2, CRIPAK, FCGBP, GOLGA6L2, GOLGA8N, HLA-A, HLA-B, HLA-C, HLA-DMA, HLA-DMB, HLA-DOA, HLA-DOB, HLA-DPA1, HLA-DPB1, HLA-DPB2, HLA-DQA1, HLA-DQA2, HLA-DQB1, HLA-DQB1-AS1, HLA-DQB2, HLA-DRA, HLA-DRB1, HLA-DRB5, HLA-DRB6, HLA-E, HLA-F, HLA-F-AS1, HLA-G, HLA-H, HLA-J, HLA-L, HTT, KRTAP4-7, KRTAP4-8, KRTAP9-6, LILRA6, LILRB3, LINC02081, LRRC37A2, MUC12, MUC16, MUC17, MUC19, MUC2, MUC20, MUC21, MUC3A, MUC4, MUC6, PDE4DIP, PRAMEF2, PRAMEF9, SIRPA, TBC1D3I, UGT1A7, USP17L1