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Merge pull request #386 from monarch-initiative/release-0.9.1
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Make release `0.9.1`
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ielis authored Jan 7, 2025
2 parents a78077a + 0248f6f commit e14538f
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2 changes: 1 addition & 1 deletion docs/conf.py
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Expand Up @@ -63,7 +63,7 @@
# The short X.Y version.
version = u'0.9'
# The full version, including alpha/beta/rc tags.
release = u'0.9.0'
release = u'0.9.1'

# The language for content autogenerated by Sphinx. Refer to documentation
# for a list of supported languages.
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26 changes: 20 additions & 6 deletions docs/tutorial.rst
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Expand Up @@ -216,7 +216,7 @@ The diagram also highlights the protein features (domains, repeats, etc.).
Summarize all variant alleles
-----------------------------

We can prepare a table of all variant alleles that occurr in the cohort.
We can prepare a table of all variant alleles that occur in the cohort.

Each table row corresponds to a single allele and lists the variant key,
the predicted effect on the transcript (*cDNA*) and protein of interest,
Expand All @@ -240,11 +240,25 @@ with one or more variant alleles (*Count*):
Partition the cohort by genotype and phenotype
==============================================

To test for genotype-phenotype associations, we need to divide the cohort into classes.
In GPSEA, we always assign a cohort member into a genotype class,
where each individual is assigned into a single class and the classes do not overlap.
The phenotype is then used to either assign an individual into a class,
or to calculate a numeric score or survival.
Testing for a genotype-phenotype association uses genotype and phenotype as variables.
In GPSEA, the variable value for an individual is computed
either by a :class:`~gpsea.analysis.clf.Classifier`
or by a :class:`~gpsea.analysis.pscore.PhenotypeScorer`.
A `Classifier` assigns the individual into a class,
whereas a `PhenotypeScorer` computes a continuous score.
The classifiers and scorers are applied on all individuals of the cohort
and the resulting variable distributions are then assessed by a statistical test.

In GPSEA, genotype is always treated as a class
and a genotype `Classifier` is a prerequisite for each analysis.
However, there is much more flexibility on the phenotype part,
where either a `Classifier` or a `PhenotypeScorer` can be used to compute the values,
depending on the analysis goals.

In this tutorial section, we first configure a `Classifier` for assigning
the individuals into a genotype class,
and we follow with generating classifiers for testing the presence or exclusion
of HPO terms in the individuals.


Partition by genotype
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Expand Up @@ -71,7 +71,7 @@ function cuts down the tedium.
Example
-------

For a phenopacket collection (e.g. 156 patients with mutations in *WWOX* gene included in Phenopacket Store version `0.1.18`)
For a phenopacket collection (e.g. 156 patients with mutations in *TBX5* gene included in Phenopacket Store version `0.1.18`)

>>> from ppktstore.registry import configure_phenopacket_registry
>>> registry = configure_phenopacket_registry()
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2 changes: 1 addition & 1 deletion src/gpsea/__init__.py
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Expand Up @@ -2,7 +2,7 @@
GPSEA is a library for finding genotype-phenotype associations.
"""

__version__ = "0.9.0"
__version__ = "0.9.1"

_overwrite = False
"""
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6 changes: 1 addition & 5 deletions src/gpsea/view/_protein_visualizer.py
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Expand Up @@ -510,11 +510,7 @@ def draw_axes(ax, x_ticks, x_ticks_relative, y_ticks, max_marker_count,
"# Variants", y_axis_x - 0.05, (y_axis_min_y + y_axis_max_y) / 2,
fontsize=font_size, ha='center', va='center', rotation=90,
)
draw_string( # x axis label
ax,
"# Codons", (x_axis_min_x + x_axis_max_x) / 2, x_axis_y - 0.05,
fontsize=font_size, ha='center', va='center', rotation=0,
)
# Note that we do not label the X-axis, the meaning will be obvious to users (amino acid residues)
# draw y ticks
draw_line( # 0 tick
ax,
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