Nature Communications · 2022 · 52 citations · 79 references
Life SciencesBiologyGeneticsGene ExpressionGenomicsTranscriptomicsExpression Quantitative Trait Loci AnalysisFunctional GenomicsGene MappingGenome-wide Association StudiesQuantitative Trait LociQuantitative Trait Loci MappingComplex Trait ArchitectureExpression Quantitative Trait LociExpression Quantitative Trait Loci MappingExpression Quantitative Trait Locus AnalysisGenome-wide Association MappingNatural Variation AnalysisPhenotypic Variation AnalysisRegulatory Variation
Phenotypic variation in organism-level traits has been studied in Caenorhabditis elegans wild strains, but the impacts of differences in gene expression and the underlying regulatory mechanisms are largely unknown. Here, we use natural variation in gene expression to connect genetic variants to differences in organismal-level traits, including drug and toxicant responses. We perform transcriptomic analyses on 207 genetically distinct C. elegans wild strains to study natural regulatory variation of gene expression. Using this massive dataset, we perform genome-wide association mappings to investigate the genetic basis underlying gene expression variation and reveal complex genetic architectures. We find a large collection of hotspots enriched for expression quantitative trait loci across the genome. We further use mediation analysis to understand how gene expression variation could underlie organism-level phenotypic variation for a variety of complex traits. These results reveal the natural diversity in gene expression and possible regulatory mechanisms in this keystone model organism, highlighting the promise of using gene expression variation to understand how phenotypic diversity is generated.
79
Fitting Linear Mixed-Effects Models Using <b>lme4</b>
Douglas M. Bates, Martin Mächler, Benjamin M. Bolker et al. · Journal of Statistical Software · 2015 · 85.6K citations · Full text
fastp: an ultra-fast all-in-one FASTQ preprocessor
Shifu Chen, Yanqing Zhou, Yaru Chen et al. · Bioinformatics · 2018 · 29.7K citations · Full text
Second-generation PLINK: rising to the challenge of larger and richer datasets
Christopher Chang, Carson C. Chow, Laurent CAM Tellier et al. · GigaScience · 2015 · 14K citations · Full text