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@alkaZeltser alkaZeltser commented Feb 18, 2025

Updates to strand flip checker functionality when handling INDELs: mark INDEL effect switches as "effect _switch"
Updates to dosage calculator to handle hemizygous genotypes: single alleles added to allowed allele format list, single alleles evaluated with haploid dosage (+ unit tests).
Updates to apply.polygenic.score to more carefully filter data for statistical analyses.

Update version to 3.0.1 (no breaking changes)

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Closes #...

Testing Results

All unit tests pass.

# check that called.alleles is a vector of genotypes in allelic notation or '.' separated by a slash or pipe
# "*" characters represent overlapping deletions from an upstream indel and are accepted VCF format
allowed.pattern <- '^((([A-Z]+|\\.|\\*)[/\\|]([A-Z]+|\\.|\\*))|\\.)$' # '|' are special chars in regular expressions
allowed.pattern <- '^((([A-Z]+|\\.|\\*)[/\\|]([A-Z]+|\\.|\\*))|\\.|[A-Z]+)$' # '|' are special chars in regular expressions

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You have some comments here about what individual characters mean. Is it possible to include an entire example? I think it would be helpful for interpretation.

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do you mean an example of characters that could be found in a VCF?

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I mean an example of what '^((([A-Z]+|\\.|\\*)[/\\|]([A-Z]+|\\.|\\*))|\\.)$' would look like in the VCF. But if users would know what allelic notation is, I suppose it would not be necessary.

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Left a comment for you to think about, but otherwise LGTM!

@alkaZeltser alkaZeltser merged commit a36670b into main Feb 22, 2025
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3 participants