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Agilent Exome Sequencing Workflow

From: $10,370.32 per project

Meenta Inc. is partnering with genomics labs and Agilent to offer a complete Whole Exome Sequencing (WES) workflow, which can accommodate a wide variety of sample types (blood, fresh frozen tissue and FFPE), sample qualities, and DNA input amounts (10–200 ng).

SKU: AGILENTEXOME01 Categories: , , , ,

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Description

Meenta and our genomics labs and Agilent to offer a complete Whole Exome Sequencing (WES) workflow, which can accommodate a wide variety of sample types (blood, fresh frozen tissue and FFPE), sample qualities, and DNA input amounts (10–200 ng). Perfect for hereditary and cancer genetics applications, this workflow uses the Agilent SureSelect human all exon kits (research, clinical, or custom) combined with the SureSelectXT low input reagent kits and SureSelect XT HS and XT low input enzymatic fragmentation kit. Then, using a NovaSeq 6000 (e.g. SP flow cell, 2 x 100 cycles for 16 samples), the host will provide at least 20x coverage of >94% of targeted bases (>5.3 GB/sample for SSEL V8 and >6.5GB/sample for SSEL CREv2). Targets protein-coding regions from RefSeq, GENCODE, CCDS, and UCSC known genes, including hard-to-capture exons that are omitted from other exomes.

Features

  • Generate libraries from as little as 10 ng of input from intact or highly fragmented FFPE DNA. Can also accommodate blood and fresh frozen tissue.
  • Excellent overall uniformity and percent on-target enable variant calling with high confidence while reducing sequencing costs.
  • Targets all pathogenic variants in the genes included in the American College of Medical Genetics guidelines for secondary findings.
Product Details

Whole Exome Sequencing (WES) has become an essential tool for health care providers and clinical research laboratories using Next-Generation Sequencing (NGS). WES is a powerful tool for the identification of genetic variations involved in human diseases, notably in the detection of point mutations and copy number variations. Although NGS has been in use for over 15 years, library preparation reagents and sequencing technologies are constantly evolving to offer increased performance and flexibility in terms of content, sequencing requirements, and turnaround time.

What is the difference between Exome Sequencing and Whole Genome Sequencing?

Whole Genome Sequencing sequences the complete DNA of an organism. In the case of a human, this corresponds to about three billion base pairs of DNA. Whole-genome sequencing entails sequencing all coding (exons) and non-coding (intron) nuclear DNA as well as mitochondrial DNA. This allows researchers to generate large quantities of data, which can then be analyzed. The exome makes up only 1.5% of the whole human genome, however, ALL protein-coding genes are found in the exome. Since most genetic disorders are correlated with mutations in protein-coding genes, most physicians and scientists who use sequencing technologies for diagnostic purposes start with an analysis of the exome. Exome sequencing and analysis typically take less time than whole-genome sequencing at less than half the cost.

How do I decide which Agilent exome kit to use?

You can use the below table as a reference, and refer to the following links for more information:

Important Links:

Why interrogate the untranslated regions (UTRs; e.g. SureSelect Human All Exon V8+UTR)?

  • The 5′ and 3′ UTRs are noncoding regions that control gene regulation and contain a myriad of regulatory elements involved in pre-mRNA processing, mRNA stability, and translation initiation.
  • Variants in the UTRs play a role in a wide variety of human diseases, including malignancies, metabolic or neurologic disorders, and inherited syndromes.
  • The UTRs represent genomic regions that may harbor yet undiscovered driver mutations of cancer pathogenesis.

Important Links:

  • Schuster and Hsieh. https://www.cell.com/trends/cancer/fulltext/S2405-8033(19)30029-9
  • Hinnebusch et al. https://www.science.org/doi/10.1126/science.aad9868
  • Whiffin et al. https://www.nature.com/articles/s41467-019-10717-9

Why include non-coding variants (e.g. SureSelect Human All Exon V8+NCV)?

  • Boost utility without significantly increasing the cost of sequencing
  • The non-coding genome is substantially larger than the protein-coding genome
  • A large fraction of the non-coding genome is functional
  • Non-coding variants are causally related to Mendelian disorders and can influence complex traits

Important links:

  • French and Edwards. https://www.sciencedirect.com/science/article/abs/pii/S0168952520301724
  • Weinhold et al. https://www.nature.com/articles/ng.3101
  • Perenthaler et al. https://www.frontiersin.org/articles/10.3389/fncel.2019.00352/full
  • Piraino and Furney. https://www.annalsofoncology.org/article/S0923-7534(19)35559-0/fulltext

 

Sample Details

Blood, fresh frozen tissue. Please contact us for FFPE sample pricing.

Payment Methods
  • Credit Card
  • PO Number

Note: These products and services are not returnable.

Questions?

Call (888) 204-5303 or email support@meenta.io

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