Authors' recommendations: In the past decade, technologies that conduct rapid sequencing of DNA segments have been providing detailed information on genetic variants. Massively parallel sequencing is allowing generation of data across the entire genome (the complete set of genetic information contained in any given cell of an organism). Whole exome sequencing (WES) involves sequencing all of the protein-coding regions (called exons) of an individual's genes (known as the exome). While exons represent only 1% of the genome, they account for approximately 85% of disease-causing variants. Through identification of variants across the exome, WES avoids the need to run multiple single-gene tests, which require prior information about variants that may be causing a disease or condition. WES has been performed in a wide variety of disorders, including Mendelian (caused by variants in a single gene) and multifactorial (affected by variants in many genes as well as environmental factors) disorders to identify de novo variants (i.e., new genetic variants in the tested individual) or inherited variants. A majority of WES studies have been conducted for rare conditions with Mendelian inheritance patterns, whereby a single gene affects the condition and a variant is usually rare with a large effect. On the other hand, analysis of multifactorial disorders (whereby variants in many genes generally each have small effects) has been conducted in some neurological disorders, but is limited for other conditions. WES has primarily been used for 2 purposes—discovery and diagnosis. Discovery refers to identification of novel or previously identified variants that may have a protein-altering function on the disease being studied. In addition, WES has generally been used as a diagnostic tool in individual cases. Identification of protein-altering (and possibly deleterious) variants using WES may provide information on potential new avenues for diagnosis and treatment.

Project Status: Completed

Year Published: 2013

URL for published report: The report may be purchased from: http://www.hayesinc.com/hayes/crd/?crd=15558

English language abstract: An English language summary is available

Publication Type: Not Assigned

Country: United States

Organisation Name: HAYES, Inc.

Contact Address: 157 S. Broad Street, Suite 200, Lansdale, PA 19446, USA. Tel: 215 855 0615; Fax: 215 855 5218

Contact Name: saleinfo@hayesinc.com

Contact Email: saleinfo@hayesinc.com

Copyright: 2013 Winifred S. Hayes, Inc