METHOD FOR DETECTING GENETIC VARIATION IN HIGHLY HOMOLOGOUS SEQUENCES BY INDEPENDENT ALIGNMENT AND PAIRING OF SEQUENCE READS

摘要

The method described herein combines experimental and analytical approaches to resolve the structure of a genomic region in the genome of a subject whose sequence is highly homologous to one or more other regions of the genome. For example, the genomic region may be a gene and the highly homologous other region may be a pseudogene or functional homolog. The method involves independent alignment, pairing, and analysis of sequence reads from the genomic region and the highly homologous other region to identify genetic variation. Also described herein is a computer-assisted method for such methods.