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Description
Implement standard ruleset for Cellbase annotations
Based on Katherine Smith's presentation of Genomics England Rare Disease Filtering rules (ACGS Exome Workshop 2017) Rules adapted were required:
Criterion 1: Variant must contain PASS filter (this maybe flagged to allow criterion to be relaxed)
Criterion 2: Allele frequency 0.01 Biallelic / 0.001 Monoallelic (can be set by args)
Criterion 3:
Following Biotypes allowed: protein_coding; nonsense_mediated_decay; non_stop_decay; IG_C_gene; IG_D_gene; IG_J_gene; IG_V_gene; TR_C_gene; TR_D_gene; TR_J_gene; TR_V_gene
High consequence: transcript_ablation; splice_acceptor_variant; splice_donor_variant; stop_gained; frameshift_variant; stop_lost; initiator_codon_variant
Moderate consequence: transcript_amplification; inframe_insertion; inframe_deletion; missense_variant; splice_region_variant; incomplete_terminal_codon_variant
Criterion 4: Segregation (maybe future work since it will require a pedigree)
Criterion 5: Gene panels (checked against HGNC api)