| URL: | https://wlcb.oit.uci.edu/TRgnomAD |
| Full name: | Tandem repeat genime aggregation database |
| Description: | TR-gnomAD is a biobank-scale reference of 0.86 million TRs derived from 338,963 whole-genome sequencing (WGS) samples of diverse ancestries (39.5% non-European samples). TR-gnomAD offers critical insights into ancestry-specific disease prevalence using disparities in TR unit number frequencies among ancestries. |
| Year founded: | 2024 |
| Last update: | 2024 |
| Version: | v1.0 |
| Accessibility: |
Accessible
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| Country/Region: | United States |
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| University/Institution: | University of California Irvine |
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| Country/Region: | United States |
| Contact name (PI/Team): | Wei Li |
| Contact email (PI/Helpdesk): | wei.li@uci.edu |
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A genome-wide spectrum of tandem repeat expansions in 338,963 humans. [PMID: 38582080]
The Genome Aggregation Database (gnomAD), widely recognized as the gold-standard reference map of human genetic variation, has largely overlooked tandem repeat (TR) expansions, despite the fact that TRs constitute ∼6% of our genome and are linked to over 50 human diseases. Here, we introduce the TR-gnomAD (https://wlcb.oit.uci.edu/TRgnomAD), a biobank-scale reference of 0.86 million TRs derived from 338,963 whole-genome sequencing (WGS) samples of diverse ancestries (39.5% non-European samples). TR-gnomAD offers critical insights into ancestry-specific disease prevalence using disparities in TR unit number frequencies among ancestries. Moreover, TR-gnomAD is able to differentiate between common, presumably benign TR expansions, which are prevalent in TR-gnomAD, from those potentially pathogenic TR expansions, which are found more frequently in disease groups than within TR-gnomAD. Together, TR-gnomAD is an invaluable resource for researchers and physicians to interpret TR expansions in individuals with genetic diseases. |