update with STR literature #133
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hdashnow
requested changes
Dec 20, 2024
data/STRchive-loci.json
Outdated
| @@ -224,9 +224,9 @@ | |||
| "pathogenic_max": 68.0, | |||
| "ref_copies": 34.0, | |||
| "motif_len": 3, | |||
| "age_onset": "Typical: 20-49 [@pmid:11436124], Range: 8 [@pmid:15851746] - 78 [@pmid:19227892].", | |||
| "age_onset": "Typical: 20-49 [@pmid:11436124], Range: 8 [@pmid:15851746] - 83 [@doi:10.17161/2tmg0f25OMIM:601068].", | |||
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Should this be formatted like this?
[@doi:https://doi.org/10.17161/2tmg0f25; @omim:601068]
data/STRchive-loci.json
Outdated
| @@ -1513,7 +1513,7 @@ | |||
| "mechanism": "GoF", | |||
| "mechanism_detail": "RNA gain-of-function: RNA gelation leading to misregulation of alternative splicing [@pmid:36169768].", | |||
| "source": [], | |||
| "details": "Intermediate alleles (35-49) associated with premutation [@genereviews:NBK1165]. 3%-8% of DM1 expansions contain variant repeats such as CCG and CGG, associated with later onset and milder phenotype [@pmid:32851192]. In another study, interruptions of the CTG repeat with CCG, GGC, CTC or CAG motifs are estimated to occur in 3-11% of DM1 patients [@pmid:35741732].", | |||
| "details": "Overview of disease locus through 2024, including largest pathogenic allele of 4,000, described in Rimoldi et al review [@pmid:39643839]. Intermediate alleles (35-49) associated with premutation [@genereviews:NBK1165]. 3%-8% of DM1 expansions contain variant repeats such as CCG and CGG, associated with later onset and milder phenotype [@pmid:32851192]. In another study, interruptions of the CTG repeat with CCG, GGC, CTC or CAG motifs are estimated to occur in 3-11% of DM1 patients [@pmid:35741732]. Alleles", | |||
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Was there supposed to be something after "Alleles" at the end?
|
1. no you don’t need the lead up to the DOI ID. 2. Ugh no the alleles bit was rewritten into the first sentence I added and evaded capture
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________________________________
From: Harriet Dashnow ***@***.***>
Sent: Friday, December 20, 2024 9:51:34 AM
To: dashnowlab/STRchive ***@***.***>
Cc: laurelhiatt ***@***.***>; Author ***@***.***>
Subject: Re: [dashnowlab/STRchive] update with STR literature (PR #133)
@hdashnow requested changes on this pull request.
________________________________
In data/STRchive-loci.json<#133 (comment)>:
@@ -224,9 +224,9 @@
"pathogenic_max": 68.0,
"ref_copies": 34.0,
"motif_len": 3,
- "age_onset": "Typical: 20-49 ***@***.***:11436124], Range: 8 ***@***.***:15851746] - 78 ***@***.***:19227892].",
+ "age_onset": "Typical: 20-49 ***@***.***:11436124], Range: 8 ***@***.***:15851746] - 83 ***@***.***:10.17161/2tmg0f25OMIM:601068].",
Should this be formatted like this?
***@***.***:https://doi.org/10.17161/2tmg0f25; @OMIM:601068]
________________________________
In data/STRchive-loci.json<#133 (comment)>:
@@ -1513,7 +1513,7 @@
"mechanism": "GoF",
"mechanism_detail": "RNA gain-of-function: RNA gelation leading to misregulation of alternative splicing ***@***.***:36169768].",
"source": [],
- "details": "Intermediate alleles (35-49) associated with premutation ***@***.***:NBK1165]. 3%-8% of DM1 expansions contain variant repeats such as CCG and CGG, associated with later onset and milder phenotype ***@***.***:32851192]. In another study, interruptions of the CTG repeat with CCG, GGC, CTC or CAG motifs are estimated to occur in 3-11% of DM1 patients ***@***.***:35741732].",
+ "details": "Overview of disease locus through 2024, including largest pathogenic allele of 4,000, described in Rimoldi et al review ***@***.***:39643839]. Intermediate alleles (35-49) associated with premutation ***@***.***:NBK1165]. 3%-8% of DM1 expansions contain variant repeats such as CCG and CGG, associated with later onset and milder phenotype ***@***.***:32851192]. In another study, interruptions of the CTG repeat with CCG, GGC, CTC or CAG motifs are estimated to occur in 3-11% of DM1 patients ***@***.***:35741732]. Alleles",
Was there supposed to be something after "Alleles" at the end?
—
Reply to this email directly, view it on GitHub<#133 (review)>, or unsubscribe<https://github.com/notifications/unsubscribe-auth/AULUPMCV2IV4ENH54BCHQBT2GRDJNAVCNFSM6AAAAABT6CSWKSVHI2DSMVQWIX3LMV43YUDVNRWFEZLROVSXG5CSMV3GSZLXHMZDKMJXHE2DKNRXGU>.
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hdashnow
approved these changes
Dec 24, 2024
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updated here from recent lit