Hierarchical analysis of RNA-seq reads improves the accuracy of allele-specific expression.

Motivation: Allele-specific expression (ASE) refers to the differential abundance of the allelic copies of a transcript. RNA sequencing (RNA-seq) can provide quantitative estimates of ASE for genes with transcribed polymorphisms. When short-read sequences are aligned to a diploid transcriptome, read-mapping ambiguities confound our ability to directly count reads.

Genome-wide compatible SNP intervals and their properties.

Intraspecific genomes can be subdivided into blocks with limited diversity. Understanding the distribution and structure of these blocks will help to unravel many biological problems including the identification of genes associated with complex diseases, finding the ancestral origins of a given population, and localizing regions of historical recombination, gene conversion, and homoplasy. We present methods for partitioning a genome into blocks for which there are no apparent recombinations, thus providing parsimonious sets of compatible genome intervals based on the four-gamete test.