The finding that the gene collapsing analyses in essential hypertension identified variation in genes (PKD1,PKD2,COL4A4,UMOD,CACNA1D, andNR3C2) that are possible causes of undiagnosed secondary hypertension is worthy a special comment. Essential, primary, or idiopathic hypertension is defined as high...
This study provides an implementation of collapsing analyses in epilepsy that explicitly evaluates signal as a function of MAF, showing that the association signal observed in epilepsy genes is concentrated amongst the rarest variants. Article CAS Google Scholar Traynelis, J. et al. Optimizing ...
Rare-variant collapsing analyses of arterial hypertension in the UK biobank.doi:10.1038/s41371-023-00829-7Bengt ZllerE. ManderstedtC. Lind‐HalldénC. HalldénNature Publishing Group UKJournal of human hypertension
Exact CMC exactCMC B N U Collapsing and combine rare variants, then perform Fisher's exact test. CMC Wald cmcWald B, Q Y U Collapsing and combine rare variants, then perform Wald test. RareCover rarecover B N U Find optimal grouping unit for rare variant tests by Thomas Hoffman. CMAT ...
Bioinformatic and rare-variant collapsing analyses for type 1 and type 2 diabetes in the UK Biobank reveal novel pleiotropic susceptibility loci Thus, the definition used in UK Biobank for T1D and T2D could differentiate between known T1D and T2D genes, which is reassuring....
Conclusions: In a large multi-ethnic cohort of 6,970 ALS patients, collapsing analyses validated known ALS genes and identified a novel potentially protective gene, ALKBH3. A first-ever analysis in 166 patients with PLS found a candidate association with loss-of-function ...
driven binning approach implemented in Bin-KAT, an automated tool, that provides 1) binning/collapsing methods for multi-level variant aggregation with a flexible, biologically informed binning strategy and 2) an option of performing unified collapsing and statistical rare variant analyses in one tool...
Here, we propose a genomic exhaustive scan approach that analyzes all possible subsequences and does not rely on a prior definition of the analysis regions. As a prime instance, we present a computationally ultraefficient implementation using the rare-variant collapsing test for phenotypic association,...
Given that the best-performed method and which variants to use depend on the underlying unknown confounding mechanisms, a robust strategy is to perform SKAT analyses using VC-based methods based on all variants.doi:10.1002/gepi.22102Luo, Yiwen...
Existing methods for analyzing rare variant data focus on collapsing a group of rare variants into a single common variant; collapsing is based on an intuitive function of the rare variant genotype information, such as an indicator function or a weighted sum. It is more natural, however, to ...