About this Research Topic
Sequencing technologies have improved dramatically over the past 20 years. This has enabled a sharp reduction in the cost of sequencing individual human genomes ae well as a dramatic improvement in the quality of the sequence data. We are now on the cusp of generating near perfect diploid analyses of the entire human genome. That said, experimental determination of the haplotypes of individual human genomes as a routine process is still largely overlooked. Furthermore, some genome regions are not accessible to typical short read NGS. Continuous long read methods enable full coverage of human genomes, but still generally need to be paired with short read NGS to achieve the highest levels of quality, and cost and throughput are still a limitation of most long read sequencing systems. In addition, tools for mapping, assembly, and interpretation of this near perfect diploid genome data are still lacking.
The goal of this Research Topic is to explore strategies for determining highly accurate and complete personal genome sequences at an affordable price for broad use. This can be achieved through simulations as well as experimentally derived sequence data. Additionally, discussions on the most appropriate ways to analyze, interpret, and utilize this data, especially in terms of phased haplotypes, which have largely been overlooked by most genome interpretation work, are highly desired. Finally, development of informatic tools and pipelines to enable these analyses would be an important contribution to this Research Topic.
We welcome all forms of submissions: Original Research Articles, Review Articles, Method Articles, Case Reports, Mini Review Articles, Code, Book Reviews, General Commentaries, Perspectives, Hypotheses & Theories.
The aim of the topic is to address key areas of computational human genome analysis, including:
-Simulations of different sequencing data types to inform what methods are best for generating the highest quality, most cost effective, and complete genomes.
-Bioinformatic approaches to improve mapping, assembly, variant calling, and phasing.
-Bioinformatic approaches using phasing for interpretation of genome data.
-Strategies to improve the human reference genome.
The goal of this Research Topic is to explore strategies for determining highly accurate and complete personal genome sequences at an affordable price for broad use. This can be achieved through simulations as well as experimentally derived sequence data. Additionally, discussions on the most appropriate ways to analyze, interpret, and utilize this data, especially in terms of phased haplotypes, which have largely been overlooked by most genome interpretation work, are highly desired. Finally, development of informatic tools and pipelines to enable these analyses would be an important contribution to this Research Topic.
We welcome all forms of submissions: Original Research Articles, Review Articles, Method Articles, Case Reports, Mini Review Articles, Code, Book Reviews, General Commentaries, Perspectives, Hypotheses & Theories.
The aim of the topic is to address key areas of computational human genome analysis, including:
-Simulations of different sequencing data types to inform what methods are best for generating the highest quality, most cost effective, and complete genomes.
-Bioinformatic approaches to improve mapping, assembly, variant calling, and phasing.
-Bioinformatic approaches using phasing for interpretation of genome data.
-Strategies to improve 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.
