1010Genome Presents Next Generation Sequencing and Whole Exome Sequencing Services

1010Genome is a providers of high quality whole exome sequencing services for research labs and routine clinical exome screening.

Next generation sequencing (NGS) has revolutionized genomic research. Using next generation sequencing, it is now feasible to sequence large amounts of DNA specific to protein coding region – exons that make up 1 percent of a individuals genome. This process is called whole exome sequencing. Exome sequencing is a cost-effective approach when whole-genome sequencing is not practical or necessary. This method allows variations in the protein-coding region of any gene to be identified, rather than in only a select few genes. About 85% of known mutations that cause disease occur in exons, whole exome sequencing is thought to be an efficient method to identify possible disease-causing mutations.

Many more genetic changes can be identified with whole exome sequencing than with select gene sequencing. Whole Exome sequencing using exome enrichment can efficiently identify coding variants across a wide range of applications, including population genetics, genetic disease, and cancer studies. In addition to being used in the clinics, whole exome sequencing are valuable methods for researchers.

1010 Genome offers design and consultation for both whole exome sequencing and bioinformatics data analysis. Laboratory scientists at 1010Genome have hands on experience extracting targeted exonic regions from blood, liquid biopsy samples and any others. A strict sample quality control procedure ensures that only valid samples get sequenced generating valuable whole exome sequencing data. The company has developed whole exome sequencing data analysis pipeline that incorporated standard tools like GATK or Google’s Deep Variant to identify SNPs and Indels with high accuracy. A final report for disease causing SNPs and INDELs provides clinicians and researchers with actionable information.

Whole Exome Sequencing Workflow and Associated Cost

Whole Exome Sequencing Workflow

Whole Exome Sequencing is more comprehensive than other single gene and panel tests, but costs more. Since inception of next generation sequencing platforms, whole exome sequencing cost have gone down quite significantly which has enabled clinicians and researchers to perform high throughput sequencing in less amount of time. Exome sequencing cost are declining as new enrichment protocols are developed and cost of bioinformatics data analysis are coming down. Until recently, whole exome sequencing cost which maps all of an individual’s genes was prohibitively expensive, costing about $20,000 just five years ago. As of last year, the average whole exome sequencing cost fell to $1,500.

Today, for research use only Whole exome sequencing cost are about $300 – $400 while clinical exome sequencing in a CLIA approved laboratory costs about $1,500. 1010Genome has mastered whole exome sequencing protocols to generate best quality sequencing data for customer samples. Robust and effective exome seq data analysis pipelines are used to identify SNPs and Indels in whole exome sequencing data set. Accurate bioinformatics data analysis helps to cut down on downstream SNP verification costs.

At 1010Genome, we have optimized whole exome sequencing and bioinformatics data analysis.

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