Bayesian estimation of allele-specific expression in the presence of phasing uncertainty.

Abstract excerpt

MOTIVATION: Allele-specific expression (ASE) analyses aim to detect imbalanced expression of maternal versus paternal copies of an autosomal gene. Such allelic imbalance can result from a variety of cis-acting causes, including disruptive mutations within one copy of a gene that impact the stability of transcripts, as well as regulatory variants outside the gene that impact transcription initiation. Current...

Topics

• Bayes Theorem
• Alleles
• Humans
• Software
• Allelic Imbalance
• Genotype
• Uncertainty