Gesequenced

Gesequenced is a term used in genomics to describe sequencing efforts that target gene regions, rather than entire genomes. In practice, it often refers to targeted sequencing approaches that prioritize exons or predefined gene sets, and to exome sequencing when focused on coding sequences. The term is informal and used in some publications to contrast gene-centric sequencing with whole-genome approaches.

Typical workflows involve designing capture probes or PCR amplicons for the selected gene regions, preparing sequencing libraries, and performing high-throughput sequencing. Bioinformatic processing then includes aligning reads to a reference genome, calling variants within the targeted regions, and annotating these variants with respect to known genes and functional impact.

Applications of gesequencing include clinical diagnostics for inherited or suspected genetic conditions, research into coding-region variation, and population genetics studies where variation in genes of interest is prioritized. The approach is commonly employed when there is a predefined hypothesis about particular genes or when sequencing resources are limited and focused data are sufficient for analysis.

Advantages of gesequencing include reduced cost and higher coverage depth for target regions compared with whole-genome sequencing, enabling more sensitive variant detection in those regions. Limitations include biased representation toward selected genes, potential gaps in capture efficiency, and the omission of noncoding regulatory elements and intergenic regions. Additionally, the results are contingent on the accuracy of reference annotations used for analysis.

See also: targeted sequencing, exome sequencing, whole-genome sequencing.