| Title: | A genome-wide spectrum of tandem repeat expansions in 338,963 humans |
| Journal: | Cell |
| Published: | 5 Apr 2024 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/38582080/ |
| DOI: | https://doi.org/10.1016/j.cell.2024.03.004 |
| URL: | http://www.cell.com/article/S0092867424002526/pdf |
Publication 9961
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Abstract
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.</p>
7 Authors
- Ya Cui
- Wenbin Ye
- Jason Sheng Li
- Jingyi Jessica Li
- Eric Vilain
- Tamer Sallam
- Wei Li
1 Application
| Application ID | Title |
|---|---|
| 78898 | develop statistical genetic methods with hidden subgroups |
Enabling scientific discoveries that improve human health