About this Research Topic
This research topic aims to explore strategies for determining highly accurate and complete personal genome sequences at an affordable price for broad use. The objectives include both simulations and experimentally derived sequence data to achieve this goal. Additionally, the research will focus on the most appropriate methods for analyzing, interpreting, and utilizing this data, with a particular emphasis on phased haplotypes, which have been largely neglected in most genome interpretation work. The development of informatic tools and pipelines to facilitate these analyses is also a key objective of this research topic.
To gather further insights into the boundaries of computational human genome analysis, we welcome articles addressing, but not limited to, the following themes:
• Simulations of different sequencing data types to determine the best methods for generating high-quality, cost-effective, and complete genomes.
• Bioinformatic approaches to improve mapping, assembly, variant calling, and phasing.
• Bioinformatic approaches using phasing for the interpretation of genome data.
• Strategies to enhance the human reference genome.
Keywords: Diploid, Genome, Phasing, Accurate, Complete, Individual
Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.