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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.
The exome is the part of the genome composed of exons, the sequences which, when transcribed, remain within the mature RNA after introns are removed by RNA splicing and contribute to the final protein product encoded by that gene.
Excellent sequencing determining the DNA sequence of a protein coding segment of all genes can identify disease causing genetic variations.
Genome sequencing determines the sequence of all of a person’s DNA and can detect disease causing genetic variations.
Exome sequencing is used clinically for patient suspected to have a genetic disease: it is performed to confirm a clinical diagnosis, or more commonly the test is performed to identify a possible genetic cause of an etiological heterogeneous condition.
Exome sequencing includes untranslated regions of mRNA, and coding sequence (or CDS).
Exome sequencing shows diagnostic yield of 8.5-10% of fetal anomalies.
Exome sequencing has proven to be an efficient method to determine the genetic basis of more than two dozen Mendelian or single gene disorders.
The exome consists of all of the exons within the genome.
The trascriptome varies between cell types only involving a portion of the exons that are actually transcribed into mRNA.
The express consists of all DNA that is transcribed into mature RNA in cells of any type, as distinct from the transcriptome, which is the RNA that has been transcribed only in a specific cell population.
The human exome consists of roughly 233,785 exons.
About 80% of exomes, which are less than 200 base pairs in length, constitute a total of about 1.1% of the total genome, or about 30 megabases of DNA.
The exome of the human genome consists of roughly 180,000 exons constituting about 1% of the total genome, or about 30 megabases of DNA.
Mutations in the exome, a very small fraction of the genome, accounts for 85% of mutations that have a large effect on disease.
The exome is distinct from the transcriptome, which is all of the transcribed RNA within a cell type.
The entirety of the exome is not translated into protein in every cell.
Different cells transcribe portions of the exome, and only the coding regions of the exons are eventually translated into proteins.
((Next-generation sequencing))allows for the rapid sequencing of large amounts of DNA.
Next-generation sequencing is more effective than other methods such as karyotyping and microarrays.
Whole genome sequencing captures a more comprehensive view of variants in the DNA compared to whole-exome sequencing.
Whole-exome sequencing has allowed healthcare providers to diagnose 30-50% of patients who were thought to have rare Mendelian disorders.
The exome increase our understanding of genetic patterns.
The exome has the potential to the change in management of patients with rare and previously unknown disorders.