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jsstevenson committed Dec 8, 2023
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5 changes: 4 additions & 1 deletion cool_seq_tool/sources/mane_transcript_mappings.py
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"""Provide fast tabular access to MANE summary file."""
"""Provide fast tabular access to MANE summary file. Enables retrieval of associated
MANE transcripts for gene symbols, genomic positions, or transcript accessions.
"""
import logging
from pathlib import Path
from typing import Dict, List
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def _load_mane_transcript_data(self) -> pl.DataFrame:
"""Load RefSeq MANE data file into DataFrame.
:return: DataFrame containing RefSeq MANE Transcript data
"""
return pl.read_csv(self.mane_data_path, separator="\t")
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22 changes: 0 additions & 22 deletions docs/TranscriptSelectionPriority.md

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1 change: 1 addition & 0 deletions docs/source/index.rst
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Expand Up @@ -16,6 +16,7 @@ Description here.

Installation<install>
Usage<usage>
Transcript Selection<transcript_selection>
API Reference<reference/index>
Contributing<contributing>
License<license>
2 changes: 2 additions & 0 deletions docs/source/reference/index.rst
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.. _api_reference:

API Reference
=============

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20 changes: 20 additions & 0 deletions docs/source/transcript_selection.rst
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Transcript Selection
====================

One of the core uses of Cool-Seq-Tool is to acquire and use consensus, representative transcripts in performing genomic analysis. Here, we describe the selection processes, programmed in the :py:class:`MANETranscript <cool_seq_tool.mappers.mane_transcript.MANETranscript>` class, for choosing the best available transcripts that are compatible with requested data.

We rely heavily on transcripts annotated under the `Matched Annotation from NCBI and EMBL-EBI (MANE)` Transcripts project. For more information on the MANE project, see the `NCBI MANE page <https://www.ncbi.nlm.nih.gov/refseq/MANE/>`_.

Representative transcript priority
----------------------------------

All compatible transcripts are evaluated and ordered against the below criteria. The candidate transcript which meets the earliest criterion is chosen as representative.

#. Transcript is annotated as a `MANE Select` transcript
#. Transcript is annotated as a `MANE Plus Clinical` transcript
#. Transcript is the longest-compatible remaining transcript
#. Transcript is the first-published (lowest-numbered RefSeq/Ensembl accession) remaining transcript

.. note::

We prefer the most recent version of a transcript associated with an assembly.
7 changes: 5 additions & 2 deletions docs/source/usage.rst
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Expand Up @@ -16,13 +16,14 @@ A core :py:class:`CoolSeqTool <cool_seq_tool.app.CoolSeqTool>` class encapsulate
>>> from cool_seq_tool.app import CoolSeqTool
>>> cst = CoolSeqTool()
.. _configuration:
Descriptions and examples of functions can be found in the :ref:`API Reference <api_reference>` section.

REST server
-----------

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.. _configuration:

Environment configuration
-------------------------
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Schema support
--------------

Many genomic data objects produced by Cool-Seq-Tool are structured in conformance with the `Variation Representation Specification <https://vrs.ga4gh.org/en/stable/>`_, courtesy of the `VRS-Python <https://github.com/ga4gh/vrs-python>` library.

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