Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes

A Mahajan, J Wessel, SM Willems, W Zhao… - Nature …, 2018 - nature.com
We aggregated coding variant data for 81,412 type 2 diabetes cases and 370,832 controls
of diverse ancestry, identifying 40 coding variant association signals (P < 2.2 × 10 −7 ); of …

Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes

J Danesh - 2018 - repository.cam.ac.uk
We aggregated coding variant data for 81,412 type 2 diabetes cases and 370,832 controls of
diverse ancestry, identifying 40 coding variant association signals (P< 2.2× 10− 7); of these…

Strategies for fine-mapping complex traits

SL Spain, JC Barrett - Human molecular genetics, 2015 - academic.oup.com
… , 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). …

Fine-mapping inflammatory bowel disease loci to single-variant resolution

H Huang, M Fang, L Jostins, M Umićević Mirkov… - Nature, 2017 - nature.com
… only 3 so refined using an earlier HapMap-based definition. … suggest that gains in fine-mapping
accuracy would be limited … -derived samples with valid diagnoses (healthy control, Crohn…

Integrating functional data to prioritize causal variants in statistical fine-mapping studies

G Kichaev, WY Yang, S Lindstrom, F Hormozdiari… - PLoS …, 2014 - journals.plos.org
… 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 through fine-mapping

From genome-wide associations to candidate causal variants by statistical fine-mapping

DJ Schaid, W Chen, NB Larson - Nature Reviews Genetics, 2018 - nature.com
… 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 …

Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps

A Mahajan, D Taliun, M Thurner, NR Robertson… - Nature …, 2018 - nature.com
… of variants with PPA >80% to 73); (v) highlight validated therapeutic targets (18 genes with
associations attributable to codingrefine the mapping resolution at those loci where genetic …

A practical view of fine-mapping and gene prioritization in the post-genome-wide association era

RV Broekema, OB Bakker, IH Jonkers - Open biology, 2020 - royalsocietypublishing.org
… This uncertainty limits the accuracy of fine-mapping through … need to be refined and validated
using tissue- and cell-type-… genes will aid drug target identification for complex diseases. In …

Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants

T Dadaev, EJ Saunders, PJ Newcombe… - Nature …, 2018 - nature.com
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. …

Integration of real‐world data and genetics to support target identification and validation

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 …