دورية أكاديمية
Accessing clinical-grade genomic classification data through the ClinGen Data Platform.
| العنوان: | Accessing clinical-grade genomic classification data through the ClinGen Data Platform. |
|---|---|
| المؤلفون: | Dalton KP; Department of Biomedical Data Science, Stanford University, Stanford, CA, USA., Rehm HL, Wright MW, Mandell ME, Krysiak K, Babb L, Riehle K, Nelson T, Wagner AH |
| المصدر: | Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing [Pac Symp Biocomput] 2023; Vol. 28, pp. 531-535. |
| نوع المنشور: | Journal Article; Research Support, N.I.H., Extramural |
| اللغة: | English |
| بيانات الدورية: | Publisher: World Scientific Country of Publication: United States NLM ID: 9711271 Publication Model: Print Cited Medium: Internet ISSN: 2335-6936 (Electronic) Linking ISSN: 23356928 NLM ISO Abbreviation: Pac Symp Biocomput Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: <2013-> : Hackensack, NJ : World Scientific Original Publication: Singapore ; River Edge, NJ : World Scientific, c1995- |
| مواضيع طبية MeSH: | Genetic Variation* , Computational Biology*, Humans ; Databases, Genetic ; Genome, Human ; Genomics |
| مستخلص: | The Clinical Genome Resource (ClinGen) serves as an authoritative resource on the clinical relevance of genes and variants. In order to support our curation activities and to disseminate our findings to the community, we have developed a Data Platform of informatics resources backed by standardized data models. In this workshop we demonstrate our publicly available resources including curation interfaces, (Variant Curation Interface, CIViC), supporting infrastructure (Allele Registry, Genegraph), and data models (SEPIO, GA4GH VRS, VA). |
| References: | Cell Genom. 2021 Nov 10;1(2):. (PMID: 35072136) JCO Clin Cancer Inform. 2020 Mar;4:245-253. (PMID: 32191543) Cell Genom. 2021 Nov 10;1(2):. (PMID: 35311178) Genet Med. 2015 May;17(5):405-24. (PMID: 25741868) Nat Genet. 2017 Jan 31;49(2):170-174. (PMID: 28138153) Nat Cancer. 2022 May;3(5):522-525. (PMID: 35624339) Genome Med. 2019 Nov 29;11(1):76. (PMID: 31779674) Genome Med. 2022 Jan 18;14(1):6. (PMID: 35039090) Genet Med. 2022 May;24(5):986-998. (PMID: 35101336) Hum Mutat. 2018 Nov;39(11):1690-1701. (PMID: 30311374) J Mol Diagn. 2017 Jan;19(1):4-23. (PMID: 27993330) |
| معلومات مُعتمدة: | R35 HG011949 United States HG NHGRI NIH HHS; U24 HG009649 United States HG NHGRI NIH HHS; U24 HG006834 United States HG NHGRI NIH HHS; U24 CA237719 United States CA NCI NIH HHS; U24 HG009650 United States HG NHGRI NIH HHS |
| تواريخ الأحداث: | Date Created: 20221221 Date Completed: 20221222 Latest Revision: 20230421 |
| رمز التحديث: | 20231215 |
| مُعرف محوري في PubMed: | PMC10114895 |
| PMID: | 36541006 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 2335-6936 |
|---|