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fix NAXE age onset range and update age onset plot (#224)
## Description Gix NAXE age onset range and update age onset plot ## Minor Changes - NAXE age of onset ranges were 0 - 0 and 1 - 1. Changed to only reporting a single range: 1 - 1 (single case of 13 month old) - Update age of onset plot - Update citations json to remove duplicates ## Checklist - [x] All changes are well summarized - [x] Check all tests pass - [x] Check that the website preview looks good - [ ] Update the STRchive version in `CITATION.cff`, format X.Y.Z. If any major changes, increment Y. If only minor changes, increment Z. If the breaking change (rare), increment X. - [x] Ask someone to review this PR --------- Co-authored-by: hdashnow <3794821+hdashnow@users.noreply.github.com>
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data/STRchive-loci.json

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@@ -2595,8 +2595,8 @@
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"age_onset": "Single repeat expansion case had onset at 13 months, while NAXE-related mitochondrial encephalopathy more generally has predominately infantile onset, extending to 20y or older [@pmid:39455596].",
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"age_onset_min": 1,
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"age_onset_max": 1,
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"typ_age_onset_min": 0,
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"typ_age_onset_max": 0,
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"typ_age_onset_min": null,
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"typ_age_onset_max": null,
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"novel": "ref",
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"mechanism": "LoF",
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"mechanism_detail": "Reduced NAXE expression from expansion in promoter; hypermethylation was detected at and downstream of the repeat sequence in the proband as well as the maternal copy of the expanded allele, which was not present in the maternal normal range allele nor in the controls [@pmid:39455596]",

data/plots/age-onset.json

Lines changed: 17 additions & 17 deletions
Original file line numberDiff line numberDiff line change
@@ -1,7 +1,7 @@
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"width": 0.6,
131-
"x": [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0.0, 0, 0, 0, 0, 0, 0, 0, 29.0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 8.0, 0, 0, 0, 0.0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0],
132-
"y": ["FECD3", "CJD", "SCA36", "FAME6", "MRUPAV", "SCA27B", "FTDALS1", "OPMD", "CANVAS", "SCA37", "ADTKD", "FAME7", "SCA6", "OPML1", "OPDM2", "HDL2", "FAME1", "XDP", "SCA4", "SCA10", "OPDM5", "FAME3", "NIID", "OPDM4", "FAME4", "SBMA", "SCA31", "SCA12", "OPDM1", "FAME8", "SCA1", "EPM1", "FAME2", "SCA", "SCA3, MJD", "EDM1, PSACH", "SCA17", "SCA2", "FRDA", "GDPAG", "FRA7A", "FRAXE", "FRA2A", "HD", "NME", "EIEE1", "PRTS", "DRPLA", "SCA7", "SCA8", "DM2", "FRA12A", "DM1", "FXS, FXTAS, POF1", "CCHS", "XLMR", "HMNR7"],
131+
"x": [0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0.0, 0, 0, 0, 0, 0, 0, 0, 29.0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 8.0, 0, 0, 0, 0.0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0],
132+
"y": ["FECD3", "CJD", "SCA36", "FAME6", "MRUPAV", "SCA27B", "FTDALS1", "OPMD", "CANVAS", "SCA37", "ADTKD", "FAME7", "SCA6", "OPML1", "OPDM2", "HDL2", "XDP", "SCA4", "SCA10", "OPDM5", "FAME3", "NIID", "OPDM4", "FAME4", "SBMA", "SCA31", "SCA12", "FAME1", "OPDM1", "FAME8", "SCA1", "EPM1", "FAME2", "SCA", "SCA3, MJD", "EDM1, PSACH", "SCA17", "SCA2", "FRDA", "GDPAG", "FRA7A", "FRAXE", "FRA2A", "HD", "NME", "EIEE1", "PRTS", "DRPLA", "SCA7", "SCA8", "DM2", "FRA12A", "DM1", "FXS, FXTAS, POF1", "CCHS", "XLMR", "HMNR7"],
133133
"type": "bar"
134134
},
135135
{
@@ -727,7 +727,7 @@
727727
"yaxis":
728728
{
729729
"tickmode": "array",
730-
"tickvals": ["FECD3", "CJD", "SCA36", "FAME6", "MRUPAV", "SCA27B", "FTDALS1", "OPMD", "CANVAS", "SCA37", "ADTKD", "FAME7", "SCA6", "OPML1", "OPDM2", "HDL2", "FAME1", "XDP", "SCA4", "SCA10", "OPDM5", "FAME3", "NIID", "OPDM4", "FAME4", "SBMA", "SCA31", "SCA12", "OPDM1", "FAME8", "SCA1", "EPM1", "FAME2", "SCA", "SCA3, MJD", "EDM1, PSACH", "SCA17", "SCA2", "FRDA", "GDPAG", "FRA7A", "FRAXE", "FRA2A", "HD", "NME", "EIEE1", "PRTS", "DRPLA", "SCA7", "SCA8", "DM2", "FRA12A", "DM1", "FXS, FXTAS, POF1", "CCHS", "XLMR", "HMNR7"],
730+
"tickvals": ["FECD3", "CJD", "SCA36", "FAME6", "MRUPAV", "SCA27B", "FTDALS1", "OPMD", "CANVAS", "SCA37", "ADTKD", "FAME7", "SCA6", "OPML1", "OPDM2", "HDL2", "XDP", "SCA4", "SCA10", "OPDM5", "FAME3", "NIID", "OPDM4", "FAME4", "SBMA", "SCA31", "SCA12", "FAME1", "OPDM1", "FAME8", "SCA1", "EPM1", "FAME2", "SCA", "SCA3, MJD", "EDM1, PSACH", "SCA17", "SCA2", "FRDA", "GDPAG", "FRA7A", "FRAXE", "FRA2A", "HD", "NME", "EIEE1", "PRTS", "DRPLA", "SCA7", "SCA8", "DM2", "FRA12A", "DM1", "FXS, FXTAS, POF1", "CCHS", "XLMR", "HMNR7"],
731731
"title":
732732
{
733733
"text": "Disease"

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