We aggregated codingvariant data for 81,412 type 2 diabetes cases and 370,832 controls of diverse ancestry, identifying 40 codingvariant association signals (P< 2.2× 10− 7); of these…
… , just one variant in LD is sufficient, but to accurately fine-map it … Some regions can be refined to a handful of variants (or indeed … enhancer mapping to identify likely target genes (31,32). …
H Huang, M Fang, L Jostins, M Umićević Mirkov… - Nature, 2017 - nature.com
… only 3 so refinedusing an earlier HapMap-based definition. … suggest that gains in fine-mapping accuracy would be limited … -derived samples with valid diagnoses (healthy control, Crohn…
… We validate our findings using a large scale meta-analysis of … our method as way to refine signal at known GWAS loci. This … accuracy for refining association signal throughfine-mapping…
… prioritize candidates for functional validation. This subjective … to refine the most likely genetic variants discovered by large-… for fine-mapping when the variants are accurately genotyped …
… of variants with PPA >80% to 73); (v) highlight validated therapeutic targets (18 genes with associations attributable to coding … refine the mapping resolution at those loci where genetic …
RV Broekema, OB Bakker, IH Jonkers - Open biology, 2020 - royalsocietypublishing.org
… This uncertainty limits the accuracy of fine-mappingthrough … need to be refined and validated using tissue- and cell-type-… genes will aid drug targetidentification for complex diseases. In …
… variant is colocalised with an eQTL in prostate cancer tissue. The refined set of candidate variants … the importance of fine-mapping studies and has implications for clinical risk profiling. …
JM Davitte, M Stott‐Miller, MG Ehm… - Clinical …, 2022 - Wiley Online Library
… effective “precision” medicines; support identification of patient … variants, in fine-mapping studies to fill in the pattern of genetic … focus on new, more refined phenotypes. With respect to …