The Type 2 Diabetes Knowledge Portal : An open access genetic resource dedicated to type 2 diabetes and related traits
Copyright © 2023 The Author(s). Published by Elsevier Inc. All rights reserved..
Associations between human genetic variation and clinical phenotypes have become a foundation of biomedical research. Most repositories of these data seek to be disease-agnostic and therefore lack disease-focused views. The Type 2 Diabetes Knowledge Portal (T2DKP) is a public resource of genetic datasets and genomic annotations dedicated to type 2 diabetes (T2D) and related traits. Here, we seek to make the T2DKP more accessible to prospective users and more useful to existing users. First, we evaluate the T2DKP's comprehensiveness by comparing its datasets with those of other repositories. Second, we describe how researchers unfamiliar with human genetic data can begin using and correctly interpreting them via the T2DKP. Third, we describe how existing users can extend their current workflows to use the full suite of tools offered by the T2DKP. We finally discuss the lessons offered by the T2DKP toward the goal of democratizing access to complex disease genetic results.
| Medienart: |
E-Artikel |
|---|
| Erscheinungsjahr: |
2023 |
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| Erschienen: |
2023 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:35 |
|---|---|
| Enthalten in: |
Cell metabolism - 35(2023), 4 vom: 04. Apr., Seite 695-710.e6 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Costanzo, Maria C [VerfasserIn] |
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| Links: |
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| Themen: |
CMDKP |
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| Anmerkungen: |
Date Completed 07.04.2023 Date Revised 15.04.2024 published: Print-Electronic Citation Status MEDLINE |
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| doi: |
10.1016/j.cmet.2023.03.001 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM354685465 |
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| 100 | 1 | |a Costanzo, Maria C |e verfasserin |4 aut | |
| 245 | 1 | 4 | |a The Type 2 Diabetes Knowledge Portal |b An open access genetic resource dedicated to type 2 diabetes and related traits |
| 264 | 1 | |c 2023 | |
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| 500 | |a Date Completed 07.04.2023 | ||
| 500 | |a Date Revised 15.04.2024 | ||
| 500 | |a published: Print-Electronic | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a Copyright © 2023 The Author(s). Published by Elsevier Inc. All rights reserved. | ||
| 520 | |a Associations between human genetic variation and clinical phenotypes have become a foundation of biomedical research. Most repositories of these data seek to be disease-agnostic and therefore lack disease-focused views. The Type 2 Diabetes Knowledge Portal (T2DKP) is a public resource of genetic datasets and genomic annotations dedicated to type 2 diabetes (T2D) and related traits. Here, we seek to make the T2DKP more accessible to prospective users and more useful to existing users. First, we evaluate the T2DKP's comprehensiveness by comparing its datasets with those of other repositories. Second, we describe how researchers unfamiliar with human genetic data can begin using and correctly interpreting them via the T2DKP. Third, we describe how existing users can extend their current workflows to use the full suite of tools offered by the T2DKP. We finally discuss the lessons offered by the T2DKP toward the goal of democratizing access to complex disease genetic results | ||
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| 650 | 4 | |a Research Support, Non-U.S. Gov't | |
| 650 | 4 | |a CMDKP | |
| 650 | 4 | |a GWAS | |
| 650 | 4 | |a T2DKP | |
| 650 | 4 | |a data sharing | |
| 650 | 4 | |a diabetes | |
| 650 | 4 | |a effector genes | |
| 650 | 4 | |a genetic associations | |
| 650 | 4 | |a genetic support | |
| 650 | 4 | |a genomics | |
| 650 | 4 | |a portal | |
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