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@brentp
Last active August 29, 2015 14:19
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scratch

$ gemini de_novo --columns "chrom, start, end, ref, alt" test.de_novo.db --min-kindreds 1 --gt-pl-max 1000 | cols

chrom  start      end        ref  alt  gene    variant_id    family_id  family_members                                                     family_genotypes  affected_samples  family_count
chr10  48003991   48003992   C    T    ASAH2C  variant_id:2  2          2_dad(dad;unaffected),2_mom(mom;unaffected),2_kid(child;affected)  C/C,C/C,C/T       2_kid             2
chr10  48004991   48004992   C    T    ASAH2C  variant_id:3  3          3_dad(dad;unaffected),3_mom(mom;unaffected),3_kid(child;affected)  C/C,C/C,C/T       3_kid             2
chr10  135336655  135336656  G    A    SPRN    variant_id:4  2          2_dad(dad;unaffected),2_mom(mom;unaffected),2_kid(child;affected)  G/G,G/G,G/A       2_kid             2
chr10  135336655  135336656  G    A    SPRN    variant_id:4  1          1_dad(dad;unaffected),1_mom(mom;unaffected),1_kid(child;affected)  G/G,G/G,G/A       1_kid             2
chr10  135369531  135369532  T    C    SYCE1   variant_id:5  1          1_dad(dad;unaffected),1_mom(mom;unaffected),1_kid(child;affected)  T/T,T/T,T/C       1_kid             3
chr10  135369531  135369532  T    C    SYCE1   variant_id:5  2          2_dad(dad;unaffected),2_mom(mom;unaffected),2_kid(child;affected)  T/T,T/T,T/C       2_kid             3
chr10  135369531  135369532  T    C    SYCE1   variant_id:5  3          3_dad(dad;unaffected),3_mom(mom;unaffected),3_kid(child;affected)  T/T,T/T,T/C       3_kid             3
chr10  1142207    1142208    T    C    WDR37   variant_id:1  1          1_dad(dad;unaffected),1_mom(mom;unaffected),1_kid(child;affected)  T/T,T/T,T/C       1_kid             1

with multiple affecteds, it looks like:

$ gemini autosomal_dominant --columns "chrom, start, end, ref, alt, impact, impact_severity" test.auto_dom.db | cols

chrom  start      end        ref  alt  impact          impact_severity  gene    variant_id    family_id  family_members                                                   family_genotypes  affected_samples  family_count
chr10  48003991   48003992   C    T    non_syn_coding  MED              ASAH2C  variant_id:3  2          2_dad(dad;unaffected),2_mom(mom;affected),2_kid(child;affected)  C/C,C/T,C/T       2_mom,2_kid       4
chr10  48003991   48003992   C    T    non_syn_coding  MED              ASAH2C  variant_id:3  3          3_dad(dad;affected),3_mom(mom;unknown),3_kid(child;affected)     C/T,C/C,C/T       3_dad,3_kid       4
chr10  48004991   48004992   C    T    non_syn_coding  MED              ASAH2C  variant_id:4  3          3_dad(dad;affected),3_mom(mom;unknown),3_kid(child;affected)     C/T,C/C,C/T       3_dad,3_kid       4
chr10  48004991   48004992   C    T    non_syn_coding  MED              ASAH2C  variant_id:4  2          2_dad(dad;unaffected),2_mom(mom;affected),2_kid(child;affected)  C/C,C/T,C/T       2_mom,2_kid       4
chr10  135336655  135336656  G    A    intron          LOW              SPRN    variant_id:5  3          3_dad(dad;affected),3_mom(mom;unknown),3_kid(child;affected)     G/A,G/G,G/A       3_dad,3_kid       1
chr10  1142207    1142208    T    C    stop_loss       HIGH             WDR37   variant_id:1  3          3_dad(dad;affected),3_mom(mom;unknown),3_kid(child;affected)     T/C,T/T,T/C       3_dad,3_kid       2
chr10  1142207    1142208    T    C    stop_loss       HIGH             WDR37   variant_id:1  2          2_dad(dad;unaffected),2_mom(mom;affected),2_kid(child;affected)  T/T,T/C,T/C       2_mom,2_kid       2```
@arq5x
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arq5x commented Apr 14, 2015

Looking good! What is the purpose of repeating "variant_id:" in each row? Also, I think affected_samples should just be samples, as the variants may be present in individuals who are not affected with a phenotype, so this will avoid confusion.

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