About this Research Topic
We believe the latest advances in long-read sequencing have brought it on par with short-reading technologies for certain assays, and in other cases (e.g., telomere to telomere whole genome sequencing) surpassed it in such a way it has become the new gold standard.
With these advances, we believe the time has come to dedicate a special issue to the latest advances in long-read sequencing technologies, their applications, and challenges. We suggest that an issue on this subject, with all its applications, will not only benefit the current community of early adopters by centralizing information and building upon it in future issues but also will help to inform (potential) novel users about its broad array of uses and associated challenges.
For this issue, we suggest keeping the scope broad, firstly because this will be the first issue of its kind, and secondly to draw in as many interested parties as possible. In our experience, this is still overseeable as was recently shown in the Long-Read Sequencing meeting in Uppsala, Sweden.
Initially, we suggest sub-sectioning this issue in substantiated review articles with the following research topics: long read technical updates and their uses (including direct read-out of DNA and RNA modifications), long read’s fundamental role in biodiversity sequencing projects (e.g. Earth Biogenome-related projects), its utility in human and medical sequencing (especially rare genetic
disorders), the comparison of complete high-quality genomes to understand differences and their
potential in specific functional relevance, novel computational challenges and approaches in e.g.
de novo genome assembly and annotation and lastly long read specific laboratory challenges related to single molecule native DNA extraction, processing and sequencing.
With these advances, we believe the time has come to dedicate a special issue to the latest advances in long-read sequencing technologies, their applications, and challenges. We suggest that an issue on this subject, with all its applications, will not only benefit the current community of early adopters by centralizing information and building upon it in future issues but also will help to inform (potential) novel users about its broad array of uses and associated challenges.
For this issue, we suggest keeping the scope broad, firstly because this will be the first issue of its kind, and secondly to draw in as many interested parties as possible. In our experience, this is still overseeable as was recently shown in the Long-Read Sequencing meeting in Uppsala, Sweden.
Initially, we suggest sub-sectioning this issue in substantiated review articles with the following research topics: long read technical updates and their uses (including direct read-out of DNA and RNA modifications), long read’s fundamental role in biodiversity sequencing projects (e.g. Earth Biogenome-related projects), its utility in human and medical sequencing (especially rare genetic
disorders), the comparison of complete high-quality genomes to understand differences and their
potential in specific functional relevance, novel computational challenges and approaches in e.g.
de novo genome assembly and annotation and lastly long read specific laboratory challenges related to single molecule native DNA extraction, processing and sequencing.
Keywords: Long read sequencing Biogenome and biodiversity sequencing Rare genetic disorders De novo genome assembly Epigenetic DNA and RNA modifications
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