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feat: get cds overlap given chromosome, start, + stop #217

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merged 11 commits into from
Nov 7, 2023
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@korikuzma korikuzma commented Nov 3, 2023

Address #216 for 0.1.x . This is needed for variation manuscript

Notes:

  • Add class (FeatureOverlap) for getting cds overlap
    • Only supports GRCh38 input
    • Returns VRS Sequence Locations
  • get_mane_summary --> get_mane
    • Now can additionally download MANE RefSeq GFF file

@korikuzma korikuzma added enhancement New feature or request priority:high High priority labels Nov 3, 2023
@korikuzma korikuzma self-assigned this Nov 3, 2023
identifier: Optional[str] = None,
residue_mode: ResidueMode = ResidueMode.RESIDUE,
) -> Optional[Dict]:
"""Get feature overlap for GRCh38 genomic data
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Would someone (Kori? @austinant?) be willing -- for my sake -- to add a descriptive sentence or two here? I can also paraphrase something from the manuscript if there's a specific relevant section

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(still a mess but hopefully more descriptive)

For input CNV, specified as a sequence location by chromosome, start, stop, this function returns all coding exons (CDS regions) with which the variant has nonzero base pair overlap. Result is a dictionary keyed by genes which overlap with the input variant, mapping to a list of the overlapping exons in each gene with the beginning and end of the variant's overlap with each.

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@korikuzma korikuzma Nov 4, 2023

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@jsstevenson updated. Let me know if that clears things up for you

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@austinant how about

        """Given GRCh38 genomic data, find the overlapping MANE features (gene and cds).
        The genomic data is specified as a sequence location by `chromosome`, `start`,
        `end`. All CDS regions with which the input sequence location has nonzero base
        pair overlap will be returned.

        :return: MANE feature (gene/cds) overlap data represented as a dict. The
            dictionary will be keyed by genes which overlap the input sequence location.
            Each gene contains a list of the overlapping CDS regions with the beginning
            and end of the input sequence location's overlap with each
            {
                gene: {
                    'cds': VRS Sequence Location
                    'overlap': VRS Sequence Location
                }
            }
        """

vrs seq loc, inter-residue, docstring
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Need to look over this with fresh brain/eyes before re-requesting reviews

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Need to look over this with fresh brain/eyes before re-requesting reviews

Ready for review!

@wesleygoar
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Good catch @ahwagner

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Good catch @ahwagner

We have to keep @ahwagner on his toes

identifier: Optional[str] = None,
residue_mode: ResidueMode = ResidueMode.RESIDUE,
) -> Optional[Dict]:
"""Get feature overlap for GRCh38 genomic data

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(still a mess but hopefully more descriptive)

For input CNV, specified as a sequence location by chromosome, start, stop, this function returns all coding exons (CDS regions) with which the variant has nonzero base pair overlap. Result is a dictionary keyed by genes which overlap with the input variant, mapping to a list of the overlapping exons in each gene with the beginning and end of the variant's overlap with each.

@korikuzma korikuzma merged commit 26f57a1 into 0.1.x Nov 7, 2023
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@korikuzma korikuzma deleted the issue-216-1-x branch November 7, 2023 13:04
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5 participants