What is Singleton in Bioinformatics?

In a genome assembly analysis, we typically generate millions of short sequence reads using Next-generation sequencing (NGS) technology for a given sample.

A large number of short sequence reads generated by NGS overlap. A genome sequence can be constructed from overlapped reads by de novo assembly or using reference genomes.

In some cases, the sequence reads do not overlap and therefore don’t contribute to contigs. A sequence read of this type is often referred to as a singleton.

A singletons sequence read could represent a unique region in the genome or it could be a sequencing error.

Singletons need to be analyzed thoroughly based on the goal of the study as they may represent rare variants or novel sequences.

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