Kerkhofs MHPM, Haijes HA, Willemsen AM, van Gassen KLI, van der Ham M, Gerrits J, de Sain-van der Velden MGM, Prinsen HCMT, van Deutekom HWM, van Hasselt PM, Verhoeven-Duif NM, Jans JJM. Whole-exome sequencing in intellectual disability; cost before and after a diagnosis. BackgroundThere are limited reports of the use of whole exome sequencing (WES) as a clinical diagnostic tool. 2018 Dec;20(12):1564-1574. doi: 10.1038/gim.2018.39. 2014 Dec;16(12):922-31 This additional depth makes exome sequencing well suited to several applications that need reliable variant calls. If you were to request human exome-sequencing services with 100x coverage, using a 62 Mb target region, your cost would be $550/sample. 1. That quality is heavily dependent upon the average number of times each base in the genome is actually 'read' during the sequencing process. How to book an appointment for Whole Exome Sequencing Test? The cost-accounting data presented here are summarized relative to two metrics: (1) "Cost per Megabase of DNA Sequence" - the cost of determining one megabase (Mb; a million bases) of DNA sequence of a specified quality [see below]; (2) "Cost per Genome" - the cost of sequencing … So-called 'next-generation' DNA sequencing methods arrived on the scene, and their effects quickly became evident in terms of lowering genome-sequencing costs; note that these NHGRI-collected data are 'retroactive' in nature, and do not always accurately reflect the 'projected' costs for genome sequencing going forward). Usher syndrome and Nebulin-associated myopathy in a single patient due to variants in. As the HGP was nearing completion, genome-sequencing pipelines had stabilized to the point that NHGRI was able to collect fairly reliable cost information from the major sequencing centers funded by the Institute. Since whole exome sequencing decodes only 1% of the genome, it fails to analyze the other 99%, including structural and non-coding regions. But since much less DNA is sequenced, whole-exome sequencing is (at least currently) cheaper than whole-genome sequencing. Note that such cost-accounting does not typically include activities such as quality assurance/quality control (QA/QC), alignment of generated sequence to a reference human genome, sequence assembly, genomic variant calling, or annotation. Insurance barriers often precluded whole exome sequencing. The discussion below is focused on the human genome; keep in mind that a single 'representative' copy of the human genome is ~3 billion bases in size, whereas a given person's actual (diploid) genome is ~6 billion bases in size. Whole, clinical exome sequencing and testing is a low cost, one-step solution that examines numerous genes simultaneously. Sci Transl Med. Córdoba M, Rodriguez-Quiroga SA, Vega PA, Salinas V, Perez-Maturo J, Amartino H, Vásquez-Dusefante C, Medina N, González-Morón D, Kauffman MA. The above estimated cost for generating the first human genome sequence by the HGP should not be confused with the total cost of the HGP. BGI Whole Exome Sequencing services are executed with the Illumina sequencing system, or exclusively with DNBseq sequencing technology, for great sequencing data at the lowest cost in the industry. There are also some surprising extremes, such as with the loblolly pine tree - its genome is ~23 billion bases in size, over seven times larger than ours. The key factors to consider when assessing the 'value' associated with an estimated cost for generating a human genome sequence - in particular, the amount of the genome (whole versus exome), quality, and associated data analysis (if any) - will likely remain largely the same. 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