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Implement ruleset #10

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pasted opened this issue Jun 30, 2017 · 0 comments
Open

Implement ruleset #10

pasted opened this issue Jun 30, 2017 · 0 comments

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pasted commented Jun 30, 2017

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)

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