A complete tool set for molecular QTL discovery and analysis.
basic_science · Level V
Where this comes from
- Record sourced from PubMed, PMID 28516912.
- Also identified by DOI 10.1038/ncomms15452 and PMC identifier 5454369.
- Licence recorded as CC BY.
- The licence permits redistribution, so the abstract is shown in full and the full text is available from the publisher.
Abstract
Population scale studies combining genetic information with molecular phenotypes (for example, gene expression) have become a standard to dissect the effects of genetic variants onto organismal phenotypes. These kinds of data sets require powerful, fast and versatile methods able to discover molecular Quantitative Trait Loci (molQTL). Here we propose such a solution, QTLtools, a modular framework that contains multiple new and well-established methods to prepare the data, to discover proximal and distal molQTLs and, finally, to integrate them with GWAS variants and functional annotations of the genome. We demonstrate its utility by performing a complete expression QTL study in a few easy-to-perform steps. QTLtools is open source and available at https://qtltools.github.io/qtltools/.
Medical subject headings
- Algorithms
- Chromosome Mapping
- Genome, Human
- High-Throughput Nucleotide Sequencing
- Quantitative Trait Loci