Exome Sequencing 80x
Illumina Omni Express (GWAS)
Human Mito. DNA Sequencing
Whole Genome Sequencing
The exome contains the functionally important coding regions of the human genome. Exome sequencing selectively targets these portions of the genome and has proven to be efficient and extremely cost-effective method of identifying DNA variants.
In contrast to traditional Sanger sequencing tests that analyze a single gene or small groups of genes at once, exome sequencing has the ability to simultaneously analyze approximately 50 million base pairs, representing 22,000 genes using next-generation sequencing (NGS). Sequencing of the exome can help identify variants that may be the genetic cause of a wide range of traits and conditions. NGS relies on a method that enriches a sample by using DNA capture probes targeted only to the exome portion of the genome. Please note that as a Research Use Only test, the exome does not include any analysis or interpretation.
The technique strongly enriches a sequencing sample for exons by DNA capture probes targeted only to the exome part of the genome
Since DNA DTC provides Research Use Only tests, we disclose the variants that have been identified, however no analysis or interpretation will be provided.
DNA DTC uses the Illumina HiSeq platform for exome testing. For additional technical details, please click here.
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The Illumina Omni Express array is a 12-sample BeadChip belonging to Next-Gen GWAS Omni family of microarrays designed to provide high sample throughput and comprehensive genomic content. It includes a total of 730,525 genome-wide markers with an average spacing of 4Kb and targets a minor allele frequency of 5% as reported in the HapMap data. This includes SNPs with 10kb of RefSeq genes, nonsynonymous SNPs (NCBI annotated), MHC/ADME SNPs, and sex chromosomes.
Coupled with the Illumina iScan platform, this Industry-standard Assay affords greater than 99% average call rates and greater than 99.9% reproducibility. The Omni Express array also supports copy number variation (CNV) analyses.
The DNA sequence of mtDNA has been determined from a very large number of individuals, and the comparison of those DNA sequences represents a mainstay of phylogenetics, in that it allows biologists to elucidate the evolutionary relationships among species. It also permits an examination of the relatedness of populations, and so has become important in anthropology and field biology.
This is the highest level mtDNA test possible. Testing covers all 15,569 base pairs which includes HVR1 and HVR2 (Hypervariable regions 1 and 2, also called the control region) and the Coding Region.
The standard limit of detection for heteroplasmies is 20%. However, for some applications this may be too low or too high. At a customer’s request, we can customize the heteroplasmy detection limit, allowing further flexibility in designing a product specifically tailored to meeting your research needs.
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While exome sequencing focuses on the detection of genomic variants in coding regions of the genome, whole genome sequencing also includes non-coding regions and allows a more complete view of an individual’s genetic makeup. DNA DTC provides sample preparation, QC and sequencing. Customers are provided only with their raw data. Please note that as a Research Use Only test, the whole genome does not include any analysis or interpretation.
Whether using the high throughput mode of the HiSeq 2000 or the rapid run mode of the HiSeq 2500, DNA DTC can offer experimental flexibility for a wide range of research needs, while providing Industry leading data quality and a cost effective workflow.