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Annotate RefSeq transcript consequences with MANE Select transcript flags

Open nawatts opened this issue 3 years ago • 0 comments

Currently, the MANE Select transcripts pipeline keys its output table by Ensembl gene ID.

https://github.com/broadinstitute/gnomad-browser/blob/b4e38686e23fe4a31ff7c9541fe78b82b4df286b/data-pipeline/src/data_pipeline/data_types/mane_select_transcript.py#L16-L25

Also, the annotate_transcript_consequences function only checks the annotation's transcript ID against the MANE Select transcript's Ensembl ID. This results in MANE Select transcript flags not being correctly set on RefSeq transcript annotations. This causes RefSeq transcript annotations to be incorrectly sorted, which may cause the incorrect transcript annotation to be shown on the browser's gene page.

https://github.com/broadinstitute/gnomad-browser/blob/b4e38686e23fe4a31ff7c9541fe78b82b4df286b/data-pipeline/src/data_pipeline/data_types/variant/transcript_consequence/annotate_transcript_consequences.py#L84-L120

nawatts avatar Jan 10 '22 19:01 nawatts