Tag Archives: allele-specific

Allele-specific transcriptional regulation, including of imprinted genes, is essential for normal mammalian development. While the regulatory regions controlling imprinted genes are associated with DNA methylation (DNAme) and specific histone...

When cellular traits are measured using high-throughput DNA sequencing, quantitative trait loci (QTLs) manifest as fragment count differences between individuals and allelic differences within individuals. Researchers from the Wellcome Trust Sanger Institute have developed RASQUAL (Robust Allele-Specific Quantitation and Quality Control), ...

Allele-specific sequencing reads provide a powerful signal for identifying molecular quantitative trait loci (QTLs), but they are challenging to analyze and are prone to technical artifacts. Here researchers from the University of Chicago and Stanford University describe WASP, a suite ...

Detecting allelic biases from high-throughput sequencing data requires an approach that maximises sensitivity while minimizing false positives. Here, researchers from the CeMM Research Center for Molecular Medicine present Allelome.PRO, an automated user-friendly bioinformatics pipeline, which uses high-throughput sequencing data from ...

The growing recognition of the importance of splicing in eukaryotes, together with rapidly accumulating RNA-sequencing data, demand robust high-throughput approaches, which efficiently analyze experimentally derived whole-transcriptome splice profiles. Researchers from The George Washington University have developed a computational approach, called ...

Allele-specific gene expression, ASE, is an important aspect of gene regulation. Scientists at Genentech Inc have developed a novel method MBASED, meta-analysis based allele-specific expression detection for ASE detection using RNA-seq data that aggregates information across multiple single nucleotide variation ...

Allele-specific expression (ASE) studies have wide-ranging implications for genome biology and medicine. Whole transcriptome RNA sequencing (RNA-Seq) has emerged as a genome-wide tool for identifying ASE, but suffers from mapping bias favoring reference alleles. Two categories of methods are adopted ...