exome

Because the human exome consists of 1% of the entire genome, it is possible to get deep coverage with relatively little reads.

Using lists of common variation from a study exome or genome-wide sequenced individual would be more reliable.

The exome represents an enriched portion of the genome that can be used to search for variants with large effect sizes.

In September 2011, the consumer genomics company 23andMe announced it would begin offering the $999 exome to existing clients.

The part of the DNA that has long been best understood is the exome, consisting of around 20,000 protein-coding genes.

The MacTel genetic study team hopes that exome analysis in the affected population and relatives may be more successful in identifying related variants.

In addition, its software made high confidence calls of an average of over 95 percent of the genome and over 94 percent of the exome.

Though comprising a very small fraction of the genome, mutations in the exome are thought to harbor 85% of disease-causing mutations.

In an average melanoma tissue sample (where melanomas have a higher exome mutation frequency) the total number of DNA sequence mutations is about 80,000.

Cancer genome sequencing is not limited to WG sequencing and can also includes exome, transcriptome, and micronome sequencing.

The complete modular protein-coding capacity of the genome is contained within the exome, and consists of DNA sequences encoded by exons that can be translated into proteins.

The robust approach to sequencing the complete coding region (exome) has the potential to be clinically relevant in genetic diagnosis due to current understanding of functional consequences in sequence variation.

Even the comparitively small scale experiments that we are doing, such as sequencing the "exome" of patients (the coding portions of the genome) take months if not years to analyze and validate.

Because of its biological importance, and the fact that it constitutes less than 2% of the genome, sequencing of the exome was the first major milepost of the Human Genome Project.

The exome is the part of the genome formed by exons, the sequences which when transcribed remain within the mature RNA after introns are removed by RNA splicing.

BGI explores associated genome and gene variation in complexes diseases in large-scale studies primarily using two methods: PCR-based resequencing of candidate genes and exon-capture-based whole exome resequencing.

It differs from the exome in that it includes only those RNA molecules found in a specified cell population, and usually includes the amount or concentration of each RNA molecule in addition to the molecular identities.

Exome sequencing (also known as targeted exome capture) is an efficient strategy to selectively sequence the coding regions of the genome as a cheaper but still effective alternative to whole genome sequencing.

On 29 September 2011, Ambry Genetics added the Clinical Diagnostic Exome, making them the first CLIA-certified laboratory to offer exome sequencing along with medical interpretation for clinical diagnostic purposes.

Within this protein-coding DNA (called the exome), an average cancer of the breast or colon can have about 60 to 70 protein altering mutations, of which about 3 or 4 may be "driver" mutations, and the remaining ones may be "passenger" mutations.