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Robust fine-mapping in the presence of linkage disequilibrium mismatch.
Nature Genetics · · Journal Article · Open access
Zhang, Lu + more
Abstract ↗AI summary
The abstract is read at the publisher; the summary is JClub's.
RSparsePro robustly fine-maps causal variants under linkage disequilibrium mismatch, producing credible sets with higher power and coverage across simulations and real loci.
- Why it matters: LD mismatch between an external reference panel and the GWAS population is common and can reduce fine-mapping accuracy, limiting reliable identification of variants.
- What they did: The method uses a probabilistic graphical model with efficient variational inference to account for LD mismatch, evaluated in simulations and in cis-protein QTL and complex-trait risk loci.
- The result: RSparsePro achieved consistently higher power and coverage in simulations, and higher enrichment for functional variants plus improved cross-study and cross–LD-reference-panel replication in fine-mapping results.
The findingWhy it mattersWhat they didThe result
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- Open access
- 9 cites