dashnowlab · hdashnow · Aug 5, 2025 · Aug 12, 2025
diff --git a/CITATION.cff b/CITATION.cff
@@ -1,5 +1,5 @@
 title: STRchive
-version: 2.9.0
+version: 2.10.0
 date-released: "2025-08-12"
 url: https://github.com/dashnowlab/STRchive
 authors:

diff --git a/data/STRchive-citations.json b/data/STRchive-citations.json
@@ -152610,6 +152610,12 @@
   "link": "https://omim.org/entry/147791",
   "note": "WARNING: Manubot does not support url:https://omim.org/entry/147791. Skipping"
 },
+{
+  "id": "omim:609812",
+  "manubot_success": false,
+  "link": "https://omim.org/entry/609812",
+  "note": "WARNING: Manubot does not support url:https://omim.org/entry/609812. Skipping"
+},
 {
   "id": "omim:615945",
   "manubot_success": false,

diff --git a/data/STRchive-disease-loci.T2T-chm13.TRGT.bed b/data/STRchive-disease-loci.T2T-chm13.TRGT.bed
@@ -30,6 +30,7 @@ chr8	119495247	119495353	ID=FAME1_SAMD12;MOTIFS=TAAAA,TGAAA;STRUC=<TR>
 chr9	27584063	27584155	ID=FTDALS1_C9orf72;MOTIFS=GGCCCC;STRUC=<TR>
 chr9	81210818	81210861	ID=FRDA_FXN;MOTIFS=A,GAA;STRUC=<TR>
 chr9	142886568	142886595	ID=HSAN-VIII_PRDM12;MOTIFS=GCC;STRUC=<TR>
+chr9	145285396	145285622	ID=MODY8_CEL;MOTIFS=GGCCCCCCCCGTGCCGCCCACGGGTGACTCCGG,GGCCCCCCCGTGCCGCCCACGGGTGACTCCGG;STRUC=<TR>
 chr10	80695718	80695748	ID=OPML1_NUTM2B-AS1;MOTIFS=GGC;STRUC=<TR>
 chr11	119226662	119226696	ID=JBS_CBL;MOTIFS=CGG;STRUC=<TR>
 chr12	6947903	6947941	ID=DRPLA_ATN1;MOTIFS=CAG;STRUC=<TR>

diff --git a/data/STRchive-disease-loci.T2T-chm13.bed b/data/STRchive-disease-loci.T2T-chm13.bed
@@ -31,6 +31,7 @@ chr8	119495247	119495353	FAME1_SAMD12	SAMD12	TAAAA	TGAAA	105	AD	Familial adult m
 chr9	27584063	27584155	FTDALS1_C9orf72	C9orf72	GGCCCC	GGCCCC	251	AD	Frontotemporal dementia (FTD) and/or amyotrophic lateral sclerosis (ALS)
 chr9	81210834	81210861	FRDA_FXN	FXN	GAA	GAA	56	AR	Friedreich ataxia
 chr9	142886568	142886595	HSAN-VIII_PRDM12	PRDM12	GCC	GCC	18	AR	Hereditary sensory and autonomic neuropathy type VIII
+chr9	145285396	145285622	MODY8_CEL	CEL	GGCCCCCCCCGTGCCGCCCACGGGTGACTCCGG	GGCCCCCCCGTGCCGCCCACGGGTGACTCCGG	3	AD	Maturity-Onset Diabetes of the Young Type 8
 chr10	80695718	80695748	OPML1_NUTM2B-AS1	NUTM2B-AS1	GGC	GGC	161	AD	Oculopharyngeal myopathy with leukoencephalopathy 1
 chr11	119226662	119226696	JBS_CBL	CBL	CGG	CGG	101	AD	Jacobsen syndrome (FRAX11B fragile site)
 chr12	6947903	6947941	DRPLA_ATN1	ATN1	CAG	CAG	48	AD	Dentatorubral-Pallidoluysian Atrophy

diff --git a/data/STRchive-disease-loci.hg19.TRGT.bed b/data/STRchive-disease-loci.hg19.TRGT.bed
@@ -30,6 +30,7 @@ chr8	119379051	119379157	ID=FAME1_SAMD12;MOTIFS=TAAAA,TGAAA;STRUC=<TR>
 chr9	27573482	27573544	ID=FTDALS1_C9orf72;MOTIFS=GGCCCC;STRUC=<TR>
 chr9	71652186	71652220	ID=FRDA_FXN;MOTIFS=A,GAA;STRUC=<TR>
 chr9	133556992	133557028	ID=HSAN-VIII_PRDM12;MOTIFS=GCC;STRUC=<TR>
+chr9	135946627	135946886	ID=MODY8_CEL;MOTIFS=GGCCCCCCCCGTGCCGCCCACGGGTGACTCCGG,GGCCCCCCCGTGCCGCCCACGGGTGACTCCGG;STRUC=<TR>
 chr10	81586139	81586160	ID=OPML1_NUTM2B-AS1;MOTIFS=GGC;STRUC=<TR>
 chr11	119076999	119077033	ID=JBS_CBL;MOTIFS=CGG;STRUC=<TR>
 chr12	7045879	7045938	ID=DRPLA_ATN1;MOTIFS=CAG;STRUC=<TR>

diff --git a/data/STRchive-disease-loci.hg19.bed b/data/STRchive-disease-loci.hg19.bed
@@ -31,6 +31,7 @@ chr8	119379051	119379157	FAME1_SAMD12	SAMD12	TAAAA	TGAAA	105	AD	Familial adult m
 chr9	27573482	27573544	FTDALS1_C9orf72	C9orf72	GGCCCC	GGCCCC	251	AD	Frontotemporal dementia (FTD) and/or amyotrophic lateral sclerosis (ALS)
 chr9	71652202	71652220	FRDA_FXN	FXN	GAA	GAA	56	AR	Friedreich ataxia
 chr9	133556992	133557028	HSAN-VIII_PRDM12	PRDM12	GCC	GCC	18	AR	Hereditary sensory and autonomic neuropathy type VIII
+chr9	135946627	135946886	MODY8_CEL	CEL	GGCCCCCCCCGTGCCGCCCACGGGTGACTCCGG	GGCCCCCCCGTGCCGCCCACGGGTGACTCCGG	3	AD	Maturity-Onset Diabetes of the Young Type 8
 chr10	81586139	81586160	OPML1_NUTM2B-AS1	NUTM2B-AS1	GGC	GGC	161	AD	Oculopharyngeal myopathy with leukoencephalopathy 1
 chr11	119076999	119077033	JBS_CBL	CBL	CGG	CGG	101	AD	Jacobsen syndrome (FRAX11B fragile site)
 chr12	7045879	7045938	DRPLA_ATN1	ATN1	CAG	CAG	48	AD	Dentatorubral-Pallidoluysian Atrophy

diff --git a/data/STRchive-disease-loci.hg38.TRGT.bed b/data/STRchive-disease-loci.hg38.TRGT.bed
@@ -30,6 +30,7 @@ chr8	118366812	118366918	ID=FAME1_SAMD12;MOTIFS=TAAAA,TGAAA;STRUC=<TR>
 chr9	27573484	27573546	ID=FTDALS1_C9orf72;MOTIFS=GGCCCC;STRUC=<TR>
 chr9	69037270	69037304	ID=FRDA_FXN;MOTIFS=A,GAA;STRUC=<TR>
 chr9	130681605	130681641	ID=HSAN-VIII_PRDM12;MOTIFS=GCC;STRUC=<TR>
+chr9	133071240	133071499	ID=MODY8_CEL;MOTIFS=GGCCCCCCCCGTGCCGCCCACGGGTGACTCCGG,GGCCCCCCCGTGCCGCCCACGGGTGACTCCGG;STRUC=<TR>
 chr10	79826383	79826404	ID=OPML1_NUTM2B-AS1;MOTIFS=GGC;STRUC=<TR>
 chr11	119206289	119206323	ID=JBS_CBL;MOTIFS=CGG;STRUC=<TR>
 chr12	6936716	6936775	ID=DRPLA_ATN1;MOTIFS=CAG;STRUC=<TR>

diff --git a/data/STRchive-disease-loci.hg38.bed b/data/STRchive-disease-loci.hg38.bed
@@ -31,6 +31,7 @@ chr8	118366812	118366918	FAME1_SAMD12	SAMD12	TAAAA	TGAAA	105	AD	Familial adult m
 chr9	27573484	27573546	FTDALS1_C9orf72	C9orf72	GGCCCC	GGCCCC	251	AD	Frontotemporal dementia (FTD) and/or amyotrophic lateral sclerosis (ALS)
 chr9	69037286	69037304	FRDA_FXN	FXN	GAA	GAA	56	AR	Friedreich ataxia
 chr9	130681605	130681641	HSAN-VIII_PRDM12	PRDM12	GCC	GCC	18	AR	Hereditary sensory and autonomic neuropathy type VIII
+chr9	133071240	133071499	MODY8_CEL	CEL	GGCCCCCCCCGTGCCGCCCACGGGTGACTCCGG	GGCCCCCCCGTGCCGCCCACGGGTGACTCCGG	3	AD	Maturity-Onset Diabetes of the Young Type 8
 chr10	79826383	79826404	OPML1_NUTM2B-AS1	NUTM2B-AS1	GGC	GGC	161	AD	Oculopharyngeal myopathy with leukoencephalopathy 1
 chr11	119206289	119206323	JBS_CBL	CBL	CGG	CGG	101	AD	Jacobsen syndrome (FRAX11B fragile site)
 chr12	6936716	6936775	DRPLA_ATN1	ATN1	CAG	CAG	48	AD	Dentatorubral-Pallidoluysian Atrophy

diff --git a/data/STRchive-loci.json b/data/STRchive-loci.json
@@ -1087,6 +1087,70 @@
   "references": ["pmid:38467784", "pmid:7603564", "pmid:10767345", "pmid:19267933", "omim:147791", "mondo:0007838"],
   "additional_literature": ["pmid:37422244", "pmid:22131879", "pmid:22084433", "pmid:16474167"]
 },
+{
+  "chrom": "chr9",
+  "start_hg38": 133071240,
+  "stop_hg38": 133071499,
+  "start_hg19": 135946627,
+  "stop_hg19": 135946886,
+  "start_t2t": 145285396,
+  "stop_t2t": 145285622,
+  "id": "MODY8_CEL",
+  "disease_id": "MODY8",
+  "gene_strand": "+",
+  "reference_motif_reference_orientation": ["GGCCCCCCCCGTGCCGCCCACGGGTGACTCCGG"],
+  "pathogenic_motif_reference_orientation": ["GGCCCCCCCGTGCCGCCCACGGGTGACTCCGG"],
+  "pathogenic_motif_gene_orientation": ["ACGGGTGACTCCGGGGCCCCCCCGTGCCGCCC"],
+  "benign_motif_reference_orientation": [],
+  "benign_motif_gene_orientation": [],
+  "unknown_motif_reference_orientation": [],
+  "unknown_motif_gene_orientation": [],
+  "disease": "Maturity-Onset Diabetes of the Young Type 8",
+  "gene": "CEL",
+  "flank_motif": null,
+  "locus_structure": "(GGCCCCCCCCGTGCCGCCCACGGGTGACTCCGG)*",
+  "inheritance": ["AD"],
+  "type": "Exonic",
+  "location_in_gene": "Exon 11",
+  "benign_min": 7,
+  "benign_max": 23,
+  "intermediate_min": null,
+  "intermediate_max": null,
+  "pathogenic_min": 3,
+  "pathogenic_max": 3,
+  "ref_copies": 7.8,
+  "motif_len": 33,
+  "age_onset": "11-17 [@pmid:19760265]",
+  "age_onset_min": 11,
+  "age_onset_max": 17,
+  "typ_age_onset_min": null,
+  "typ_age_onset_max": null,
+  "novel": "novel",
+  "mechanism": "LoF?",
+  "mechanism_detail": "Loss of function at the protein level is possibly a part of the molecular mechanism. Research suggests that the mutations disrupt the C-terminal protein, leading to reduced stability of the mutant lipase in vitro [@pmid:16369531].",
+  "source": [],
+  "details": "There are two types of mutations proposed, a single basepair deletion causing a frameshift mutation [@pmid:16369531; @pmid:19760265]. One of these is a (C)8 to (C)7 within the VNTR causing a motif change (this is the pathogenic motif represented here). Also, a possible contraction from 4 to 3 VNTR repeats may be pathogenic with reduced penetrance, although evidence for this is sparse [@pmid:19760265].",
+  "omim": ["609812"],
+  "prevalence": null,
+  "prevalence_details": "Found in individuals of Danish and Norwegian ancestry [@pmid:16369531; @pmid:19760265].",
+  "stripy": [],
+  "gnomad": [],
+  "genereviews": [],
+  "mondo": ["0012348"],
+  "year": "2005",
+  "medgen": ["342845"],
+  "orphanet": ["552"],
+  "gard": [],
+  "malacard": ["MTR082"],
+  "webstr_hg38": [],
+  "webstr_hg19": [],
+  "tr_atlas": [],
+  "disease_description": "Maturity-onset diabetes of the young type 8 (MODY8) is characterized by onset of diabetes before age 25 years, with slowly progressive pancreatic exocrine dysfunction, fatty replacement of pancreatic parenchyma (lipomatosis), and development of pancreatic cysts [@omim:609812]. Other types of this disease have been associated with various genes and variant types. Comorbidity has been proposed between MODY and fecal elastase deficiency (FED).",
+  "locus_tags": ["unknown_evidence", "contraction"],
+  "disease_tags": [],
+  "references": ["pmid:19760265", "pmid:16369531", "omim:609812"],
+  "additional_literature": ["pmid:40641008", "pmid:39710966", "pmid:38483348", "pmid:38473919", "pmid:38458477", "pmid:36379850", "pmid:35583610", "pmid:35215948", "pmid:35156195", "pmid:35082198", "pmid:34850019", "pmid:34507899", "pmid:34100900", "pmid:33862081", "pmid:27802312", "pmid:27650499", "pmid:27773618", "pmid:23395566", "pmid:21784842", "pmid:15841033"]
+},
 {
   "chrom": "chr3",
   "start_hg38": 129172576,