Long-read sequencing - pitfalls, benefits and success stories

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About this Research Topic

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Background

Long-read sequencing is an approach that holds promise to obtain genomic information for the first time in its entirety, accurately and resolved by haplotypes. In recent years the accuracy of long read sequencing technologies, such as Oxford Nanopore (ONT) and PacBio, has significantly improved. Already now, long read sequencing can be used to reach an unprecedented genetic resolution, accessing previously inaccessible regions of the genome and revolutionizing genetic research in many fields. For this advancement, major, simultaneous algorithmic developments were essential, for example in the context of assembly, variant calling, pangenomics and base calling.



We invite contributions centered around long read sequencing, with the goal to highlight empirical and theoretical benefits of the approach, challenges towards obtaining accurate and complete genetic information, and pitfalls encountered in the context of current long read sequencing data as well as utilized algorithms. Further, we are interested in studies applying long read sequencing in novel as well as established fields. In particular, studies and findings enabled by long read sequencing and highlighting how long read sequencing was the key to success are encouraged.



We are interested in any type of submission involving long read sequencing data. In the case that contributions involve long read sequencing, but do not address the scope of the call, we may suggest how to address an aspect of this call. Alternatively, we can redirect the submission to be considered for publication at Frontiers Genetics directly.

Topics of this article collection may be, but are not limited to, long read sequencing for/in:

• Data analysis algorithms and tools as well as their application

• Variant identification (small and structural variants)

• Base accuracy and base calling

• Theoretical considerations and computational simulations assessing sequencing data

• Sequencing protocol-specific data characteristics and limitations of protocols

• Resolving repetitive regions

• Base modifications

• RNA long read sequencing

• Studies addressing PacBio and/or ONT-specific data characteristics

• Human, medical and population genetics

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