Match!
V. Kartik Chundru
University of Queensland
DNA methylationGeneticsImputation (statistics)BiologyGenetic architecture
2Publications
0Citations
What is this?
Publications 3
Newest
#1V. Kartik Chundru (UQ: University of Queensland)
#2Riccardo E. Marioni (Edin.: University of Edinburgh)H-Index: 40
Last. Peter M. Visscher (UQ: University of Queensland)H-Index: 109
view all 12 authors...
Testing the effect of rare variants on phenotypic variation is difficult due to the need for extremely large cohorts to identify associated variants given expected effect sizes. An alternative approach is to investigate the effect of rare genetic variants on low-level genomic traits, such as gene expression or DNA methylation (DNAm), as effect sizes are expected to be larger for low-level compared to higher-order complex traits. Here, we investigate DNAm in healthy ageing populations - the Lothi...
Source
#1V. Kartik Chundru (UQ: University of Queensland)
#2Riccardo E. MarioniH-Index: 40
Last. Allan F. McRae (UQ: University of Queensland)H-Index: 42
view all 12 authors...
Genetic variants disrupting DNA methylation at CpG dinucleotides (CpG-SNP) provide a set of known causal variants to serve as models for testing fine-mapping methodology. We use 1716 CpG-SNPs to test three fine-mapping approaches (BIMBAM, BSLMM, and the J-test), assessing the impact of imputation errors and the choice of reference panel by using both whole-genome sequence (WGS), and genotype array data on the same individuals (n=1166). The choice of imputation reference panel had a strong effect...
Source
Source
1