About: whole genome sequencing assay   Goto Sponge  NotDistinct  Permalink

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AttributesValues
type
label
  • whole genome sequencing assay
subClassOf
described by
term editor
  • ImmPort
example of usage
  • WGS permits comprehensive sequencing of introns and exons, whereas whole exome sequencing (WES) allows deeper sequencing of exonic regions at a lower cost. Due to the large number of genetic variants found in each genome, it is necessary to use filtering approaches to distinguish deleterious from benign variants. WES has been used successfully to identify novel genetic causes of primary immunodeficiency. Complex structural variations and non-Mendelian disorders remain challenges for WGS.
definition
  • A DNA sequencing assay that intends to provide information about the sequence of an entire genome of an organism.
  • A DNA sequencing assay that intends to provide information about the sequence of an entire genome of an organism.
definition source
  • PMID:23095910
  • PMID:25827230
alternative label
  • WGS
editor preferred term
  • whole genome sequencing assay
has curation status
editor note
  • Genotyping assays should ideally identify which part of the genome the information is about. We do not currently have a good way to do this. That information should be added later.
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