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hdashnow merged 12 commits into from
Jul 10, 2025
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Epm1 details #227

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9230040
EPM1 details.json
Macayla-weiner Jul 9, 2025
2409c5a
Update CITATION.cff
Macayla-weiner Jul 9, 2025
280ee8c
Update data
Macayla-weiner Jul 9, 2025
b805f77
EMP1-2.json
Macayla-weiner Jul 10, 2025
50e9274
CITATION-2.cff
Macayla-weiner Jul 10, 2025
0c2dfa6
EMP1-3.json
Macayla-weiner Jul 10, 2025
7b231a8
EPM1-4json
Macayla-weiner Jul 10, 2025
fe77881
Update data
hdashnow Jul 10, 2025
40d3392
update citations and plots
hdashnow Jul 10, 2025
7b0471e
Update data
hdashnow Jul 10, 2025
5e3db65
sort age of onset plot by min, then typical then max age
hdashnow Jul 10, 2025
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sort in other direction
hdashnow Jul 10, 2025
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4 changes: 2 additions & 2 deletions CITATION.cff
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@@ -1,6 +1,6 @@
title: STRchive
version: 2.5.1
date-released: "2025-07-08"
version: 2.6.0
date-released: "2025-07-10"
url: https://github.com/dashnowlab/STRchive
authors:
- family-names: Dashnow
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263 changes: 263 additions & 0 deletions data/STRchive-citations.json
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2 changes: 1 addition & 1 deletion data/STRchive-disease-loci.T2T-chm13.bed
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Expand Up @@ -13,7 +13,7 @@ chr3 63956302 63956333 SCA7_ATXN7 ATXN7 CAG CAG 37 AD Spinocerebellar ataxia typ
chr3 131917482 131917557 DM2_CNBP CNBP CAGG CAGG 75 AD Myotonic dystrophy type 2
chr3 141687011 141687054 BPES_FOXL2 FOXL2 NGC NGC 15 AD,AR Blepharophimosis, epicanthus inversus, and ptosis
chr3 186521667 186521706 FAME4_YEATS2 YEATS2 TTTTA TTTCA 1000 AD Familial adult myoclonic epilepsy 4
chr4 3073603 3073687 HD_HTT HTT CAG CAG 40 AD Huntington disease
chr4 3073603 3073687 HD_HTT HTT CAG CAG 36 AD Huntington disease
chr4 39318077 39318136 CANVAS_RFC1 RFC1 AAAAG AAGGG,ACAGG,AGGGC,AAGGC,AGAGG 400 AR Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
chr4 41719745 41719805 CCHS_PHOX2B PHOX2B GCN GCN 26 AD Congenital central hypoventilation syndrome
chr4 162693303 162693405 FAME7_RAPGEF2 RAPGEF2 TTTTA TTTCA 60 AD Familial adult myoclonic epilepsy type 7
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2 changes: 1 addition & 1 deletion data/STRchive-disease-loci.hg19.bed
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Expand Up @@ -13,7 +13,7 @@ chr3 63898360 63898391 SCA7_ATXN7 ATXN7 CAG CAG 37 AD Spinocerebellar ataxia typ
chr3 128891419 128891499 DM2_CNBP CNBP CAGG CAGG 75 AD Myotonic dystrophy type 2
chr3 138664861 138664904 BPES_FOXL2 FOXL2 NGC NGC 15 AD,AR Blepharophimosis, epicanthus inversus, and ptosis
chr3 183429975 183430014 FAME4_YEATS2 YEATS2 TTTTA TTTCA 1000 AD Familial adult myoclonic epilepsy 4
chr4 3076603 3076660 HD_HTT HTT CAG CAG 40 AD Huntington disease
chr4 3076603 3076660 HD_HTT HTT CAG CAG 36 AD Huntington disease
chr4 39350044 39350103 CANVAS_RFC1 RFC1 AAAAG AAGGG,ACAGG,AGGGC,AAGGC,AGAGG 400 AR Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
chr4 41747989 41748049 CCHS_PHOX2B PHOX2B GCN GCN 26 AD Congenital central hypoventilation syndrome
chr4 160263678 160263770 FAME7_RAPGEF2 RAPGEF2 TTTTA TTTCA 60 AD Familial adult myoclonic epilepsy type 7
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2 changes: 1 addition & 1 deletion data/STRchive-disease-loci.hg38.bed
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Expand Up @@ -13,7 +13,7 @@ chr3 63912684 63912715 SCA7_ATXN7 ATXN7 CAG CAG 37 AD Spinocerebellar ataxia typ
chr3 129172576 129172656 DM2_CNBP CNBP CAGG CAGG 75 AD Myotonic dystrophy type 2
chr3 138946019 138946062 BPES_FOXL2 FOXL2 NGC NGC 15 AD,AR Blepharophimosis, epicanthus inversus, and ptosis
chr3 183712187 183712226 FAME4_YEATS2 YEATS2 TTTTA TTTCA 1000 AD Familial adult myoclonic epilepsy 4
chr4 3074876 3074933 HD_HTT HTT CAG CAG 40 AD Huntington disease
chr4 3074876 3074933 HD_HTT HTT CAG CAG 36 AD Huntington disease
chr4 39348424 39348483 CANVAS_RFC1 RFC1 AAAAG AAGGG,ACAGG,AGGGC,AAGGC,AGAGG 400 AR Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
chr4 41745972 41746032 CCHS_PHOX2B PHOX2B GCN GCN 26 AD Congenital central hypoventilation syndrome
chr4 159342526 159342618 FAME7_RAPGEF2 RAPGEF2 TTTTA TTTCA 60 AD Familial adult myoclonic epilepsy type 7
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