Copy Number Variants and heritability estimates on UKBiobank data
Boulahfa, J.; Le Floch, E.; Pierre-Jean, M.; Deleuze, J.-F.; Dandine-Roulland, C.
Show abstract
Copy Number Variants (CNVs) are sometimes used to perform association studies. The aim of this paper was to study the use of CNVs in another context: heritability estimation. We wanted to assess the impact of using CNVs in these estimates, either alone, or in conjunction with Single Nucleotide Polymorphisms (SNPs). Using real SNP and CNV data from UK Biobank, we simulated phenotypes depending either on one or the two type(s) of data. We showed that mixed models, usually used for estimating heritability on SNP data, were also capable of estimating CNV heritability and to properly decipher between CNV and SNP heritabilities when phenotypes depend on both types of data. However CNV heritability estimation becomes more challenging when it is only supported by the few relatively common CNVs. Finally we estimated CNV and SNP heritabilities for two real phenotypes from UK Biobank (height and hypertension) but only hypertension showed a small but non-null CNV heritability of about 1.7%.
Matching journals
The top 6 journals account for 50% of the predicted probability mass.
Similar papers in this journal
- A robust and adaptive framework for interaction testing in quantitative traits between multiple genetic loci and exposure variables 94%
- ADELLE: A global testing method for Trans-eQTL mapping 94%
- A Fast and Scalable Framework for Large-scale and Ultrahigh-dimensional Sparse Regression with Application to the UK Biobank 94%
Similar papers in this journal
Similar papers in this journal
Similar papers in this journal
- An exploration of linkage fine-mapping on sequences from case-control studies 94%
- A robust association test leveraging unknown genetic interactions: Application to cystic brosis lung disease 94%
- Taking population stratification into account by local permutations in rare-variant association studies on small samples 94%
Similar papers in this journal
- A novel framework for analysis of the shared genetic background of correlated traits 94%
- VarGenius-HZD allows accurate detection of rare homozygous or hemizygous deletions in targeted sequencing leveraging breadth of coverage 90%
- The FORCE panel: An all-in-one SNP marker set for confirming investigative genetic genealogy leads and for general forensic applications 90%
"Similar papers" are the closest papers from that journal in the model's embedding space. They show what the match is built on, but the ranking comes mostly from a classifier over the whole training set, not from these examples alone.