[HTML][HTML] Population structure in genetic studies: Confounding factors and mixed models
A genome-wide association study (GWAS) seeks to identify genetic variants that contribute
to the development and progression of a specific disease. Over the past 10 years, new …
to the development and progression of a specific disease. Over the past 10 years, new …
[HTML][HTML] FinnGen provides genetic insights from a well-phenotyped isolated population
…, K Silander, S Siltanen, S Soini, H Soininen, JH Sul… - Nature, 2023 - nature.com
Population isolates such as those in Finland benefit genetic research because deleterious
alleles are often concentrated on a small number of low-frequency variants (0.1% ≤ minor …
alleles are often concentrated on a small number of low-frequency variants (0.1% ≤ minor …
Variance component model to account for sample structure in genome-wide association studies
Although genome-wide association studies (GWASs) have identified numerous loci associated
with complex traits, imprecise modeling of the genetic relatedness within study samples …
with complex traits, imprecise modeling of the genetic relatedness within study samples …
[PDF][PDF] Colocalization of GWAS and eQTL signals detects target genes
The vast majority of genome-wide association study (GWAS) risk loci fall in non-coding regions
of the genome. One possible hypothesis is that these GWAS risk loci alter the individual's …
of the genome. One possible hypothesis is that these GWAS risk loci alter the individual's …
[HTML][HTML] Accurate estimation of cell composition in bulk expression through robust integration of single-cell information
We present Bisque, a tool for estimating cell type proportions in bulk expression. Bisque
implements a regression-based approach that utilizes single-cell RNA-seq (scRNA-seq) or …
implements a regression-based approach that utilizes single-cell RNA-seq (scRNA-seq) or …
Interrogating the genetic determinants of Tourette's syndrome and other tic disorders through genome-wide association studies
Objective: Tourette’s syndrome is polygenic and highly heritable. Genome-wide association
study (GWAS) approaches are useful for interrogating the genetic architecture and …
study (GWAS) approaches are useful for interrogating the genetic architecture and …
Extracellular vesicles from adipose tissue‐derived stem cells alleviate osteoporosis through osteoprotegerin and miR‐21‐5p
Osteoporosis is one of the most common skeletal disorders caused by the imbalance between
bone formation and resorption, resulting in quantitative loss of bone tissue. Since stem cell…
bone formation and resorption, resulting in quantitative loss of bone tissue. Since stem cell…
[PDF][PDF] Rare copy number variants in NRXN1 and CNTN6 increase risk for Tourette syndrome
Tourette syndrome (TS) is a model neuropsychiatric disorder thought to arise from abnormal
development and/or maintenance of cortico-striato-thalamo-cortical circuits. TS is highly …
development and/or maintenance of cortico-striato-thalamo-cortical circuits. TS is highly …
[PDF][PDF] De novo coding variants are strongly associated with Tourette disorder
Whole-exome sequencing (WES) and de novo variant detection have proven a powerful
approach to gene discovery in complex neurodevelopmental disorders. We have completed …
approach to gene discovery in complex neurodevelopmental disorders. We have completed …
Co-expression networks reveal the tissue-specific regulation of transcription and splicing
Gene co-expression networks capture biologically important patterns in gene expression
data, enabling functional analyses of genes, discovery of biomarkers, and interpretation of …
data, enabling functional analyses of genes, discovery of biomarkers, and interpretation of …