Whole-Exome Sequencing: Technical Details Jim Mullikin Director, NIH Intramural Sequencing Center Head, Comparative Genomics Unit Whole Exome Sequencing, Why? Two methods, whole exome sequencing and whole genome sequencing, are increasingly used in healthcare and research to identify genetic variations; … Submission of a completed patient history form and consent form is required for the patient and each parental or family member’s sample (see Submit with Order below). Preferred test to determine etiology of a patient’s symptoms if Mendelian genetic condition is suspected. Parental control specimens are required for this test; order Exome Sequencing, Familial Control ().). Whole Exome Sequencing While similar to WGS, WES reads only the parts of the human genome that encode proteins. As one of the widely used targeted sequencing method, whole-exome sequencing (WES) has become more and more popular in clinical and basic research. 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. I have annotated my WES VCF file using annovar for prioritizing I'm using different cutoff such as frequency less than 1%, CADD score greater than 15 GERP score greater than 5 Polyphen, SIFT, Mutpred as deleterious This policy does not address the use of whole exome and whole genome sequencing for preimplantation genetic diagnosis or screening, prenatal (fetal) testing, or testing of cancer cells. Whole Exome Sequencing (WES) has become an essential tool for health care providers and clinical research laboratories using Next-Generation Sequencing (NGS). Whole Exome Sequencing MOL.TS.235.A v2.0.2019 Procedures addressed The inclusion of any procedure code in this table does not imply that the code is under management or requires prior authorization. during the original exome evaluation • There has been the birth or diagnosis of a similarly affected first-degree relative that has expanded the clinical picture . Determining the order of DNA building blocks (nucleotides) in an individual's genetic code, called DNA sequencing, has advanced the study of genetics and is one technique used to test for genetic disorders. Whole Genome Sequencing . Whole exome sequencing (WES) is a type of genetic testing that is used to determine the nucleotide sequence (or DNA sequence) of the exonic (the expressed or protein-coding) regions of an individual’s genome. Standard Whole Exome Sequencing or Whole Genome Sequencing . •Focuses on the part of the genome we understand best, the exons of genes •Exomes are ideal to help us understand high-penetrance allelic variation and its relationship to phenotype. Whole exome sequencing (WES) (81415 and 81416) is medically necessary for a phenotypically- affected individual when all of the following criteria are met: Individual has been evaluated by a board-certified medical geneticist or other board-certified Refer to the specific Health Plan's procedure code list for management requirements. I'm new to NGS data analysis, can anyone suggest me free tools for prioritizing my Variants from the Whole-exome sequencing VCF file. Standard WES or WGS turn-around time is usually 1 to 3 months. Whole genome sequencing (WGS) is experimental, investigational, and unproven.

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