About this Research Topic
The field of genome sequencing has seen remarkable advancements over the past two decades, leading to a significant reduction in the cost of sequencing individual human genomes and a substantial improvement in the quality of sequence data. Despite these advancements, the routine experimental determination of haplotypes in individual human genomes remains largely overlooked. Additionally, certain genome regions remain inaccessible to typical short-read next-generation sequencing (NGS) technologies. While continuous long-read methods offer the potential for full coverage of human genomes, they often need to be paired with short-read NGS to achieve the highest quality, and issues related to cost and throughput persist. Furthermore, there is a notable lack of tools for the mapping, assembly, and interpretation of near-perfect diploid genome data. Addressing these gaps is crucial for advancing our understanding and utilization of personal genome sequences.
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.
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.
