The exome is composed of all of the exons within the genome, the sequences which, when transcribed, remain within the mature RNA after introns are removed by RNA splicing. This includes untranslated regions of messenger RNA (mRNA), and coding regions. Exome sequencing has proven to be an efficient method of determining the genetic basis of more than two dozen Mendelian or single gene disorders.[1]
^Bamshad MJ, Ng SB, Bigham AW, Tabor HK, Emond MJ, Nickerson DA, Shendure J (September 2011). "Exome sequencing as a tool for Mendelian disease gene discovery". Nature Reviews Genetics. 12 (11): 745–55. doi:10.1038/nrg3031. PMID 21946919. S2CID 15615317.
The exome is composed of all of the exons within the genome, the sequences which, when transcribed, remain within the mature RNA after introns are removed...
Exome sequencing, also known as whole exome sequencing (WES), is a genomic technique for sequencing all of the protein-coding regions of genes in a genome...
example, unsolicited findings (U.F.s) of pediatric exome sequencing. They are findings based on pediatric exome sequencing that explain in greater detail the...
can identify mutations within the protein-coding part of the genome (the exome) and predict potential neoantigens. In mice models, for all novel protein...
Charles; Pietsch, John; Lim, Foong-Yen; Bucher, Brian (2014-03-01). "Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital...
tests for hundreds of rare diseases, as well as panels of genes and whole exome sequencing (20,000 gene) Mendelian disorders using massively-parallel DNA...
sequencing techniques. The methods that are the most commonly used are whole exome sequencing and whole genome sequencing. Both approaches are used to identify...
species constitutes the genome, the entire set of exons constitutes the exome. The term exon derives from the expressed region and was coined by American...
5% of the total genomic DNA. Within this protein-coding DNA (called the exome), an average cancer of the breast or colon can have about 60 to 70 protein...
only be conducted by a performance of an IQ test score of below 70. Whole exome sequencing (WES) can be used as a non-biased tool in the diagnostic evaluation...
dominance model. Another study in 2021, which looked at whole-genomes and whole-exomes of 3,362 unrelated Turkish samples, resulted in establishing the first Turkish...
failed to identify many single gene variants of large effect. More recent exome and genome sequencing studies have begun to reveal a number of de novo gene...
Wang J, Breen MS, De Rubeis S, An JY, et al. (February 2020). "Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in...
R, Iacopetta B (2012). "Gene discovery in familial cancer syndromes by exome sequencing: prospects for the elucidation of familial colorectal cancer...
O'Brien K, Hauser NS, Sapp JC, Dorward HM, Huizing M, Barshop BA (2011). "Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic...
T, Reigo A, Nikkolo C, Kals M, Aruaas K, et al. (February 2017). "Whole-exome sequencing identifies a potential TTN mutation in a multiplex family with...
Nikopensius T, Reigo A, Nikkolo C, Kals M, Aruaas K, et al. (2017). "Whole-exome Sequencing Identifies a Potential TTN Mutation in a Multiplex Family With...
Julie C; Dorward, Heidi M; Huizing, Marjan; Barshop, Bruce A (2011). "Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic...
Karch S, Hinderhofer K, et al. (July 2017). "Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye". American Journal of Medical...
Manoli I, Chandler RJ, Krause C, Carrillo-Carrasco N, et al. (August 2011). "Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic...
AK, Louvi A, Kwan KY, Choi M, Tatli B, et al. (September 2010). "Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations"...
very beginnings. Exome sequencing has become increasingly popular as a tool to aid in diagnosis of genetic disease because the exome contributes only...
portion of a genome is sequenced. Several platforms were developed to perform exome sequencing (a subset of all DNA across all chromosomes that encode genes)...
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