exome
C2/TechnicalTechnical/Scientific
Definition
Meaning
The complete set of exons in a genome.
The part of the genome formed by exons, which are coding sequences of genes that are expressed to produce proteins. In genetics and medicine, exome sequencing is used to identify mutations associated with diseases.
Linguistics
Semantic Notes
A highly specialised term from molecular genetics and genomics, rarely used outside these fields. It is a subset (the coding part) of the genome.
Dialectal Variation
British vs American Usage
Differences
No significant differences in meaning or usage.
Connotations
Identical technical connotations.
Frequency
Equally rare in general usage; exclusive to genetics/genomics contexts in both dialects.
Vocabulary
Collocations
Grammar
Valency Patterns
the exome of [organism/genome]sequence [possessive pronoun] exomeanalyse the exome for variantsVocabulary
Synonyms
Strong
Neutral
Weak
Vocabulary
Antonyms
Phrases
Idioms & Phrases
- “There are no idioms for this technical term.”
Usage
Context Usage
Business
Used only in business contexts related to biotechnology, genetic testing, or pharmaceutical R&D.
Academic
Standard term in genetics, genomics, molecular biology, and medical research papers.
Everyday
Virtually never used in everyday conversation.
Technical
Core technical term in genetic diagnostics and research.
Examples
By Part of Speech
verb
British English
- The lab will exome-sequence the patient's sample.
- They opted to exome the tumour tissue.
American English
- The clinic will exome-sequence the trio.
- We need to exome the proband.
adverb
British English
- The region was sequenced exome-specifically.
- They analysed it exome-wide.
American English
- The region was sequenced exome-specifically.
- They analyzed it exome-wide.
adjective
British English
- The exome data was revealing.
- Exome analysis is a standard step.
American English
- The exome data were revealing.
- Exome analysis is a standard step.
Examples
By CEFR Level
- 'Exome' is a word scientists use when they study genes.
- Doctors can use exome sequencing to find genetic diseases.
- Whole exome sequencing is now a common tool for diagnosing rare genetic disorders.
- The research focused on comparing the exomes of affected individuals to controls, identifying several novel pathogenic variants.
Learning
Memory Aids
Mnemonic
Think: EXOne coMplEtE = EXOME. It's the complete set of EXONS (the expressed parts) of the genome.
Conceptual Metaphor
The exome is the 'executive summary' or 'active manuscript' of the genome, while the introns are the 'archived drafts' or 'editorial notes'.
Watch out
Common Pitfalls
Translation Traps (for Russian speakers)
- Do not confuse with 'экзосома' (exosome, a extracellular vesicle). The Russian equivalent is often транслитерируется as 'экзом' or described as 'экзомная часть генома'.
Common Mistakes
- Confusing 'exome' with 'genome' (the exome is a part of the genome).
- Confusing 'exome' with 'exosome' (a different biological structure).
- Using it as a countable noun incorrectly (e.g., 'an exome' is acceptable, but 'exomes' is more common in plural contexts).
Practice
Quiz
What does 'exome' specifically refer to?
FAQ
Frequently Asked Questions
The genome is the complete set of DNA (including both coding exons and non-coding introns/intergenic regions). The exome is only the subset consisting of all the exons (the protein-coding parts).
It is more cost-effective than whole-genome sequencing and targets the ~2% of the genome where most known disease-causing mutations are found, making it efficient for diagnosing genetic disorders.
No. It only detects variants in exonic regions and their immediate flanking sequences. It misses mutations in introns, regulatory regions, and structural variants outside the exome.
No. It is a highly specialised technical term used almost exclusively in genetics, genomics, and clinical medicine.