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 (known as the exome).[1] It consists of two steps: the first step is to select only the subset of DNA that encodes proteins. These regions are known as exons—humans have about 180,000 exons, constituting about 1% of the human genome, or approximately 30 million base pairs. The second step is to sequence the exonic DNA using any high-throughput DNA sequencing technology.[2]
The goal of this approach is to identify genetic variants that alter protein sequences, and to do this at a much lower cost than whole-genome sequencing. Since these variants can be responsible for both Mendelian and common polygenic diseases, such as Alzheimer's disease, whole exome sequencing has been applied both in academic research and as a clinical diagnostic.
Exome sequencing workflow: part 2.
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^Ng SB, Turner EH, Robertson PD, Flygare SD, Bigham AW, Lee C, Shaffer T, Wong M, Bhattacharjee A, Eichler EE, Bamshad M, Nickerson DA, Shendure J (10 September 2009). "Targeted capture and massively parallel sequencing of 12 human exomes". Nature. 461 (7261): 272–276. Bibcode:2009Natur.461..272N. doi:10.1038/nature08250. PMC 2844771. PMID 19684571.
Exomesequencing, also known as whole exomesequencing (WES), is a genomic technique for sequencing all of the protein-coding regions of genes in a genome...
untranslated regions of messenger RNA (mRNA), and coding regions. Exomesequencing has proven to be an efficient method of determining the genetic basis...
genome sequencing should not be confused with methods that sequence specific subsets of the genome – such methods include whole exomesequencing (1–2%...
conducted by a performance of an IQ test score of below 70. Whole exomesequencing (WES) can be used as a non-biased tool in the diagnostic evaluation...
Whole genome or exomesequencing typically use high throughput DNA sequencing technologies. Limiting the sequencing to only the whole exome instead can decrease...
genome using DNA sequencing techniques. The methods that are the most commonly used are whole exomesequencing and whole genome sequencing. Both approaches...
High-throughput sequencing, which includes next-generation "short-read" and third-generation "long-read" sequencing methods, applies to exomesequencing, genome...
whole exomesequencing, considering both synonymous mutations and hotspot driver mutations. Ensembles of targeted panels and whole exomesequencing panels...
the individual in question. Whole exomesequencing is a brute-force approach that involves using modern day sequencing technology and DNA sequence assembly...
unsolicited findings (U.F.s) of pediatric exomesequencing. They are findings based on pediatric exomesequencing that explain in greater detail the intellectual...
as panels of genes and whole exomesequencing (20,000 gene) Mendelian disorders using massively-parallel DNA sequencing and deletion/duplication analysis...
members. After having SNP-based linkage analysis followed by whole-exomesequencing, the researchers leading the study found a rare genetic mutation in...
proof-of-concepts of next-generation DNA sequencing. Shendure's research group at the University of Washington pioneered exomesequencing and its application to Mendelian...
a mutation in the retinoic acid-induced 1(RAI1) gene through Whole ExomeSequencing, but there has been no otherwise proven link between the RAI1 gene...
all 20,000 genes of the human genome at once through exomesequencing and whole genome sequencing. A catalogue of the many uses of these techniques can...
PMID 993918. Opitz JM, Jorde LB (July 27, 2011). "Hamartoma Syndromes, ExomeSequencing, and a Protean Puzzle". The New England Journal of Medicine. 365 (7):...
individual tumor genomes. Deep-sequencing technologies can identify mutations within the protein-coding part of the genome (the exome) and predict potential neoantigens...
Monaghan RM, Fotiou E, Cordell HJ, et al. (February 2019). "Whole ExomeSequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of...
Vellarikkal SK, Jayarajan R, Dixit V, Verma A, et al. (April 2016). "Whole-exomesequencing solves diagnostic dilemma in a rare case of sporadic acrokeratosis...
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