Table of Contents
What is exome capture?
Exome capture is a reduced representation approach that selectively captures sequence from only the gene-bearing regions of a genome.
How accurate is whole exome sequencing?
“On average, we capture and sequence >99.4% of the exome with a quality enabling reliable variant calls. Coverage also refers to how many times each nucleotide is being sequenced.
Is exome sequencing cost effective?
Whole-exome sequencing was most cost-effective when applied at initial presentation to tertiary care compared with first clinical genetics assessment and the standard diagnostic pathway.
How many GB is a human exome?
Allowing for some extra analysis results storage and assuming whole genome samples are done at read lengths of 75 or above, the size of each whole genome sample can be rounded off to about 150 GB and the size of each exome sample to about 8 GB.
What is the difference between exome and genome sequencing?
What is the difference between Exome Sequencing and Genome Sequencing? Exome sequencing is a capture-based method that targets and sequences coding regions of the genome, referred to as “the exome”. In contrast, genome sequencing doesn’t require a capture step and offers coverage across the entire genome.
What is the purpose of exome testing?
What Is the Purpose of Whole Exome Sequencing? The purpose of whole exome sequencing is to try to find a genetic cause of your or your child’s signs and symptoms. Most people who have WES have already had some genetic testing. WES is one of the most extensive genetic tests available.
What is difference between Wes and WGS?
Although whole-genome sequencing (WGS) provides rich information about single nucleotide, structural, or copy number variants, whole-exome sequencing (WES) often makes more sense when time or resources are limited.
What can exome sequencing not detect?
Exome sequencing is limited in detecting the following types of mutations (this list might not be exhaustive): large rearrangements. copy number variation mutations (large deletions/duplications) mitochondrial genome mutations.
Which of the following is a disadvantage of exome sequencing?
Which of the following is a disadvantage of exome sequencing? Exome sequencing only identifies conditions associated with recessive alleles. Exome sequencing does not directly identify the gene, but identifies only the region of the genome containing the gene.
How much does exome sequencing cost?
Exome sequencing costs in various cancer and non-cancer patient groups are in the range of US$1292 to $3594 per patient [14, 17, 18]. These compare with per-patient costs of targeted panels of known clinical variants for patients with cancer of US$695 to $2861 (2018 prices) [19,20,21,22].
How many MB is a whole exome?
In total, the new GENCODE exome set developed here covers 47.9 Mb and performed well in sequence capture experiments.
How many MB is human DNA?
691 megabytes
Since there are about 2.9 billion base pairs in the human genome, (2 * 2.9 billion) bits ~= 691 megabytes.
Why is WGS better than WES?
WGS has more reliable sequence coverage. Differences in the hybridization efficiency of WES capture probes can result in regions of the genome with little or no coverage. Coverage uniformity with WGS is superior to WES.
Why is whole exome sequencing better than whole genome sequencing?
Exomes compose only about 2% of the whole genome. Because the genome is so much larger, exomes are able to be sequenced at a much greater depth (number of times a given nucleotide is sequenced) for lower cost. This greater depth provides more confidence in low frequency alterations.
What does the exome include?
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. Though composing a very small fraction of the genome, mutations in the exome are thought to harbor 85% of mutations that have a large effect on disease.
Is exome sequencing cheaper than whole-genome sequencing?
Whole-exome sequencing (WES) is gradually being optimized to identify mutations in increasing proportions of the protein-coding exome, but whole-genome sequencing (WGS) is becoming an attractive alternative. WGS is currently more expensive than WES, but its cost should decrease more rapidly than that of WES.
What is a disadvantage of exome sequencing?
The major limitation of exome sequencing may be the inability to comprehensively represent genomic SVs. Many groups have designed algorithms that use a read depth or read pair-based approach for predicting structural variation; however, these approaches are not very efficient at identifying SVs with exome data.
What is the advantages of exome sequencing?
Exome sequencing is a cost-effective approach when whole-genome sequencing is not practical or necessary. Sequencing only the coding regions of the genome enables researchers to focus their resources on the genes most likely to affect phenotype, and offers an accessible combination of turnaround time and price.
Does 23andMe sequence your entire genome?
No, their DNA tests do not sequence your genome. The type of testing technology used by 23andMe, Ancestry.com, and similar companies test less than 0.1% of your genome. Their tests, which are called genotyping microarray tests, do not sequence your genes and do not test your whole genome.
What are the differences between the different exome capture technologies?
The technologies also differ in the regions they target, and in the total number of bases targeted. For instance, NimbleGen targets 64.1 Mb, Agilent targets 51.1 Mb, and TruSeq and Nextera targets 62.08 Mb of human genome.Interestingly, only 26.2 Mb of the total targeted bases are common among all exome capture technologies (Figure 1 A).
How much genome does exome capture target?
For instance, NimbleGen targets 64.1 Mb, Agilent targets 51.1 Mb, and TruSeq and Nextera targets 62.08 Mb of human genome.Interestingly, only 26.2 Mb of the total targeted bases are common among all exome capture technologies (Figure 1 A).
What are the best solutions for human exome capture?
There are currently four major solution-based human exome capture systems available: Agilent’s SureSelect Human All Exon, NimbleGen’s SeqCap EZ Exome Library [ 8 ], Illumina’s TruSeq Exome Enrichment, and Illumina’s Nextera Exome Enrichment [ 9 ].
How is sureselect XT used for exome capture?
SureSelectXT All Exons Individual exome capture of each DNA sample followed by single-indexed library generation was carried out using the SureSelect XT Target Enrichment System (Agilent Inc.). 200ng of DNA was fragmented to a size range of 150bp-200bp followed by end repair, adaptor ligation, and low cycle (6–10 cycles) PCR.