SNP Detection

RVboost: RNA-Seq variants prioritization using a boosting method

rna-seq

RNA-Seq has become the method of choice to quantify genes and exons, discover novel transcripts, and detect fusion genes. However, reliable variant identification from RNA-Seq data remains challenging due to the complexities of the transcriptome, the challenges of accurately mapping ...

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sQTLseekeR – Identification of genetic variants associated with alternative splicing

rna-seq

Identification of genetic variants affecting splicing in RNA sequencing population studies is still in its infancy. Splicing phenotype is more complex than gene expression and ought to be treated as a multivariate phenotype to be recapitulated completely. Here a team ...

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Calling genotypes from public RNA-sequencing data enables identification of genetic variants that affect gene-expression levels

rna-seq

Given increasing numbers of RNA-seq samples in the public domain, researchers at the University of Groningen studied to what extent expression quantitative trait loci (eQTLs) and allele-specific expression (ASE) can be identified in public RNA-seq data while also deriving the ...

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