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Releases: jeremymcrae/clinical-filter

0.5.0

27 Jul 14:02
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  • restructured into python package
  • refactored code
  • split out info into separate class
  • account for multinucleotide variant consequences
  • lowered minor allele frequency threshold
  • added imprinting, X-linked over-dominant and mosaic modes of inheritance
  • fixed problem loading singletons
  • fixed problem with CNVs with missing MADL2R values

0.3.6

13 Aug 16:03
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  • shifted start_lost to loss-of-function consequences
  • fixed bug where we missed long CNVs not in known genes
  • CNVs now use the per-gene symbols when available
  • turned on filtering using ExAC frequencies
  • reworked removing variants based on polyphen predictions
    • now use per gene polyphen predictions
    • all variants with polyphen benign get removed, not just the
      ones in trios
  • re-include compound hets in proband-only analyses
  • fixed bugs that lead to missing DDG2P CNVs under various scenarios
  • updated rules for CNVs overlapping syndrome regions
  • exclude monoallelic and X-linked dominant variants with high
    ExAC allele frequencies
  • exclude compound hets when proband-only where both hets are
    missense
  • only include compound hets in trios when in trans
  • fixed bug when checking if CNVs intersect known gene boundaries

0.3.5

22 Jul 12:47
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  • bug fix for CNV inheritance when analysing proband-only.
  • include X-linked over-dominance mode of inheritance.
  • fix bug when parsing ped files when only one parent is specified.
  • numerous changes to proband-only filtering.
    • lower MAF threshold for monoallelic and X-linked dominant variants
      when analysing proband-only.
    • remove heterozygous variants from recessive genes when
      analysing proband-only.

0.3.4

22 Jul 12:38
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  • minor bug fixes for CNV filtering, and case with multi-allelic sites where the alleles affect different "genes"
  • updated paths for new datafreeze in helper scripts

0.3.3

08 Jul 08:45
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  • include CNVs in filter output
  • allow for alternate gene symbols to capture additional compound
    heterozygotes (useful when not using a list of known genes).

0.3.2

02 Jul 08:33
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Don't exclude variants that fail VQSLOD threshold, as the variants that pass all other criteria but fail this aspect contain a sufficiently high proportion of reportable variants. This adds around 20% more inherited variants.

0.3.1

01 Jul 15:12
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minor fix for variants with single consequence, no HGNC, but multiple HGNC_ALL

0.3.0

29 Jun 13:13
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Allow for per-gene consequences

0.2.0

17 Apr 08:57
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  • exclude inherited male chrX variants with non-zero hemizygous counts in ExAC.

0.1.2

08 Apr 11:58
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  • include additional gene annotations when available
  • drop the known genes overlap checking, since we have the additional gene annotations