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exome
[ ek-sohm ]
noun
- Genetics. the portions of a gene or genome that code information for protein synthesis; the exons in the human genome.
Example Sentences
Researchers provide AIM with patients' exome sequence data and symptoms, and AIM provides a ranking of the most likely gene candidates causing the rare disease.
The researchers tested AIM's clinical exome reanalysis on a dataset of UDN and DDD cases and found that it was able to correctly identify 57% of diagnosable cases.
Researchers created and analyzed a database of variants derived from exome sequencing, a genomics assay providing a glimpse into genetic variation genomewide, of 773 unrelated volunteers who were affected with various suspected rare Mendelian disease traits, which are diseases caused by a mutation in a single gene and clearly passed down from one generation to the next in accordance with Gregor Mendel expectations.
In a new study, recently published in Genetics in Medicine, they show for the first time that using exome sequencing -- which reads only protein-coding DNA -- is as accurate, if not better, than standard microarrays at identifying disease-causing structural genetic variations.
In this new study, scientists set out to develop a single approach to detect these structural changes, using data available from genome-wide exome sequencing assays.
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