scholarly journals Expression Quantitative Trait Locus Study of Bone Mineral Density GWAS Variants in Human Osteoclasts

2018 ◽  
Vol 33 (6) ◽  
pp. 1044-1051 ◽  
Author(s):  
Benjamin H Mullin ◽  
Kun Zhu ◽  
Jiake Xu ◽  
Suzanne J Brown ◽  
Shelby Mullin ◽  
...  
Keyword(s):  
Bone Mineral Density ◽  
Quantitative Trait Locus ◽  
Bone Mineral ◽  
Quantitative Trait ◽  
Expression Quantitative Trait Locus ◽  
Mineral Density ◽  
Quantitative Trait Locus Study ◽  
Trait Locus ◽  
Human Osteoclasts

scholarly journals Interspecies synteny mapping identifies a quantitative trait locus for bone mineral density on human chromosome Xp22

2005 ◽  
Vol 14 (21) ◽  
pp. 3141-3148 ◽  
Author(s):  
Claire A. Parsons ◽  
H. Joel Mroczkowski ◽  
Fiona E.A. McGuigan ◽  
Omar M.E. Albagha ◽  
Stavros Manolagas ◽  
...  
Keyword(s):  
Bone Mineral Density ◽  
Quantitative Trait Locus ◽  
Human Chromosome ◽  
Bone Mineral ◽  
Quantitative Trait ◽  
Mineral Density ◽  
Trait Locus ◽  
Synteny Mapping

scholarly journals Optimizing expression quantitative trait locus mapping workflows for single-cell studies

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Anna S. E. Cuomo ◽  
Giordano Alvari ◽  
Christina B. Azodi ◽  
Davis J. McCarthy ◽  
Marc Jan Bonder ◽  
...  
Keyword(s):  
Gene Expression ◽  
Quantitative Trait Locus ◽  
Single Cell ◽  
Quantitative Trait ◽  
Cell Types ◽  
Expression Quantitative Trait Locus ◽  
Eqtl Mapping ◽  
Trait Locus ◽  
The Impact

Abstract Background Single-cell RNA sequencing (scRNA-seq) has enabled the unbiased, high-throughput quantification of gene expression specific to cell types and states. With the cost of scRNA-seq decreasing and techniques for sample multiplexing improving, population-scale scRNA-seq, and thus single-cell expression quantitative trait locus (sc-eQTL) mapping, is increasingly feasible. Mapping of sc-eQTL provides additional resolution to study the regulatory role of common genetic variants on gene expression across a plethora of cell types and states and promises to improve our understanding of genetic regulation across tissues in both health and disease. Results While previously established methods for bulk eQTL mapping can, in principle, be applied to sc-eQTL mapping, there are a number of open questions about how best to process scRNA-seq data and adapt bulk methods to optimize sc-eQTL mapping. Here, we evaluate the role of different normalization and aggregation strategies, covariate adjustment techniques, and multiple testing correction methods to establish best practice guidelines. We use both real and simulated datasets across single-cell technologies to systematically assess the impact of these different statistical approaches. Conclusion We provide recommendations for future single-cell eQTL studies that can yield up to twice as many eQTL discoveries as default approaches ported from bulk studies.

scholarly journals Bone mineral density variation in men is influenced by sex-specific and non sex-specific quantitative trait loci

Bone ◽  
2009 ◽  
Vol 45 (3) ◽  
pp. 443-448 ◽  
Author(s):  
Munro Peacock ◽  
Daniel L. Koller ◽  
Dongbing Lai ◽  
Siu Hui ◽  
Tatiana Foroud ◽  
...  
Keyword(s):  
Bone Mineral Density ◽  
Quantitative Trait Loci ◽  
Bone Mineral ◽  
Quantitative Trait ◽  
Density Variation ◽  
Mineral Density ◽  
Trait Loci
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