Approaches to the comprehensive interpretation of genome-scale sequencing Book Section
| Authors: | Austin-Tse, C. A.; Ceyhan-Birsoy, O. |
| Editors: | Lázaro, C.; Lerner-Ellis, J.; Spurdle, A. |
| Article/Chapter Title: | Approaches to the comprehensive interpretation of genome-scale sequencing |
| Title Series: | Translational and Applied Genomics |
| Abstract: | Genome-scale sequencing (GS) provides unparalleled opportunities to screen thousands of genes simultaneously and reveal a wide range of health-related information including cause of genetic disease in affected individuals, risk of disease in apparently unaffected individuals, carrier status for recessive disease, and pharmacogenetic variants that implicate drug sensitivity or response. Comprehensive interpretation of GS relies on selecting the right approaches for variant detection, filtration, and return of results depending on the purpose of testing. This chapter will review contexts in which GS is applied, important concepts in the analysis of genomic data, criteria used in selecting returnable results, and the types of results that may be returned. © 2021 Elsevier Inc. All rights reserved. |
| Keywords: | genetic screening; personalized medicine; genome sequencing; exome sequencing; variant interpretation; variants of uncertain clinical significance |
| Book Title: | Clinical DNA Variant Interpretation: Theory and Practice: A Volume in Translational and Applied Genomics |
| ISBN: | 978-0-12-820519-8 |
| Publisher: | Academic Press |
| Publication Place: | London, United Kingdom |
| Date Published: | 2021-01-01 |
| Start Page: | 237 |
| End Page: | 250 |
| Language: | English |
| DOI: | 10.1016/b978-0-12-820519-8.00012-0 |
| PROVIDER: | scopus |
| DOI/URL: | |
| Notes: | Book Chapter: 12, part of "Section 1: Theoretical chapters" -- Export Date: 1 April 2022 -- Source: Scopus |
