- The impact of rare and low|frequency genetic variants in common ...🔍
- The contribution of common and rare genetic variants to variation in ...🔍
- Unique roles of rare variants in the genetics of complex diseases in ...🔍
- Impact of rare and low|frequency sequence variants on reliability of ...🔍
- Low|Frequency and Rare|Coding Variation Contributes ...🔍
- The functional impact of rare variation across the regulatory cascade🔍
- Extensive impact of low|frequency variants on the phenotypic ...🔍
- How important are rare variants in common disease?🔍
The impact of rare and low|frequency genetic variants in common ...
The impact of rare and low-frequency genetic variants in common ...
Despite thousands of genetic loci identified to date, a large proportion of genetic variation predisposing to complex disease and traits ...
The impact of rare and low-frequency genetic variants in common ...
In this study, we evaluated the multi-gene panel results of Common Variable Immunodeficiency (CVID) patients and argue that rare variants located in different ...
The contribution of common and rare genetic variants to variation in ...
This study highlights the need to consider the joint contribution of both common and rare variants on inherited risk of metabolic traits and related diseases.
Unique roles of rare variants in the genetics of complex diseases in ...
Although the majority are common variants, rare variants with >0.1% of minor allele frequency have been investigated by imputation and using ...
Impact of rare and low-frequency sequence variants on reliability of ...
For instance, nonsynonymous SNPs are expected to make a larger contribution to genetic variance than synonymous SNPs [9]. In the human genome, ...
Low-Frequency and Rare-Coding Variation Contributes ... - Cell Press
Multiple strands of evidence suggest that much of the remaining heritability is also due to additive effects of common variants rather than epistasis between ...
The impact of rare and low-frequency genetic variants in common ...
Despite thousands of genetic loci identified to date, a large proportion of genetic variation predisposing to complex disease and traits remains unaccounted ...
The impact of rare and low-frequency genetic variants in common ...
Moutsianas L, Agarwala V, Fuchsberger C, Flannick J, Rivas MA, Gaulton KJ, et al. The power of gene-based rare variant methods to detect disease-associated ...
The functional impact of rare variation across the regulatory cascade
There are thousands of rare (minor allele frequency [MAF] < 1%) genetic variants in every human genome but determining which, if any, exert a ...
Common, low-frequency, rare, and ultra-rare coding variants ...
Variants were converted into 12 sets of Boolean features to better represent the variability at the gene-level. First, any variant not impacting ...
Extensive impact of low-frequency variants on the phenotypic ... - eLife
As GWAS cannot deal with low-frequency and rare variants due to statistical limitations, except for very large sample sizes, their effect has ...
The impact of rare and low-frequency genetic variants in common ...
Experimental approaches and current knowledge on the contribution of low-frequency and rare variants in complex disease and the challenges and opportunities ...
Rare, Low-Frequency, and Common Variants in the Protein-Coding ...
Overall, our results indicate that variants (distributed across the allele-frequency spectrum) within the protein-coding portion of a subset of biological ...
How important are rare variants in common disease?
[8], the authors define a rare variant as a genetic variant with a minor allele frequency (MAF) of <1%, and so they consider that the variant is ...
Emerging roles of rare and low-frequency genetic variants in type 1 ...
Intriguingly, many studies have indicated that rare and low-frequency variants have larger effect sizes and play more significant roles in susceptibility to ...
Biological impact of ultra-rare, rare, low-frequency, and common...
... Most of the variants identified in our study have allele frequencies (< 1%). A growing number of studies support the key role of rare variants in causing ...
The impact of low-frequency and rare variants on lipid levels.
The low-frequency variants increased the proportion of variance explained, particularly for low-density lipoprotein cholesterol and total cholesterol.
Searching for missing heritability: Designing rare variant association ...
Genomic studies over the last half decade have shed light on the genetic basis of common polygenic human diseases and traits, identifying thousands of loci and ...
In search of low-frequency and rare variants affecting complex traits
Initial insights into the contribution of rare variants in common diseases and medically relevant quantitative traits point to low-frequency and rare alleles ...
Genetic Variation and Risk of Hypertrophic Cardiomyopathy
Rare variant carrier status was defined as the presence of an HCM–American College of Medical Genetics and Genomics (ACMG) variant. Low ...