Exomsequencinget

Exomsequencinget is a coined term that refers to an integrated workflow for exome sequencing, combining laboratory methods with computational analysis and interpretation. The term is not widely standardized in the scientific literature, and it is often treated as a variant spelling or shorthand for traditional exome sequencing workflows.

Core components of exomsequencinget include sample collection and DNA extraction, exome capture, sequencing on high-throughput platforms, read alignment to a reference genome, variant calling and filtering, and annotation against public databases. The interpretive phase weighs evidence for pathogenicity, penetrance, and potential clinical actionability, and it may generate a report for researchers or clinicians.

Applications of exomsequencinget span diagnostic investigations of suspected genetic disorders, discovery of gene-disease associations, and research in pharmacogenomics and cancer exomes. Exomsequencinget workflows may be adapted for newborn screening pilots or population studies under appropriate consent and governance.

Limitations include incomplete and uneven exome coverage, missing noncoding regions that may harbor disease variants, and the challenge of interpreting variants of uncertain significance. Ethical, legal, and social considerations, data privacy, and cost considerations also constrain widespread use.

See also: Exome sequencing; Next-generation sequencing; Genomic annotation; ClinVar; gnomAD