What is it about?
We developed RefEditor, a software tool that can edit the universal reference genome to custom made a diploid, personalized reference genome that can be used for better mapping of short reads produced by all types of sequencing experiments.
Why is it important?
If you compare any two individuals, roughly 1% of the genome (excluding chrs X and Y) will be different between them. But in practice, we always used the same, universal reference genome for mapping, even though in many scenarios, we have good knowledge of the mutation profiles of the study subjects. We believe mapping to personalized diploid reference genome will improve read mapping and consequently variant calling downstream. Our extensive numerical studies using real sequencing data confirms the significant improvement.
Read the Original
This page is a summary of: One Size Doesn't Fit All - RefEditor: Building Personalized Diploid Reference Genome to Improve Read Mapping and Genotype Calling in Next Generation Sequencing Studies, PLoS Computational Biology, August 2015, PLOS, DOI: 10.1371/journal.pcbi.1004448.
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