Data · dataset · 2022
Code for Supplementary Figure 7 of 'De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders'
Listed in ScienceDB
Description
Model comparison and gene constrain analysis. a, Venndiagrams show gene overlap between CH model and DenovolyzeR model in terms of LGDmutations and missense mutations, respectively. b, Comparison of gnomAD pLI score andMis Z score of known SG-related NDD genes (KNOWN, gnomAD pLI: n = 17; Mis Zscore: n = 20), newly implicated SG-related NDD genes (NEW, gnomAD pLI: n = 22; MisZ score: n = 38). and SG genes without significant NDD association (FALSE, gnomADpLI: n = 800; Mis Z score: n = 785) (two-tailed Wilcoxon rank sum test)
Links
Where it is published
- DOI doi.org/10.57760/sciencedb.01823 ↗
DOI / persistent id · from scidb cn
Catalogue records · 1
- OAI-PMH record scidb.cn/oai?verb=GetRecord&metadataPrefix=oai_dc&identifier=10.57760%2… ↗
metadata API · from scidb cn
Topics
- From keywords
- Earth & Environmental Science · Engineering · Humanities · Life Sciences · Social Science
- Inferred from text
- Genetics 72%
Provenance · 1 source records, 10 field assertions
| Source | Key | Last seen | Raw |
|---|---|---|---|
| ScienceDB | 10.57760/sciencedb.01823 | 8 d ago | JSON v1 |
| Field | Assertion | Extractor | Evidence |
|---|---|---|---|
| concepts[field].anzsrc:group:3105 | enrichment · scidb cn | taxonomy-embedding@1.0.0 | title+keywords+description (72%) |
| concepts[field].local:field:earth-environmental | mapping · scidb cn | connector:scidb_cn@1.0.0 | |
| concepts[field].local:field:engineering | mapping · scidb cn | connector:scidb_cn@1.0.0 | |
| concepts[field].local:field:humanities | mapping · scidb cn | connector:scidb_cn@1.0.0 | |
| concepts[field].local:field:life-sciences | mapping · scidb cn | connector:scidb_cn@1.0.0 | |
| concepts[field].local:field:social-science | mapping · scidb cn | connector:scidb_cn@1.0.0 | |
| description | source · scidb cn | connector:scidb_cn@1.0.0 | /metadata/dc/description |
| license_text | source · scidb cn | connector:scidb_cn@1.0.0 | |
| publication_date | source · scidb cn | connector:scidb_cn@1.0.0 | |
| title | source · scidb cn | connector:scidb_cn@1.0.0 | /metadata/dc/title |