Somatic data usage for classification of germ line variants Book Section
| Author: | Walsh, M. F. |
| Editors: | Lázaro, C.; Lerner-Ellis, J.; Spurdle, A. |
| Article/Chapter Title: | Somatic data usage for classification of germ line variants |
| Title Series: | Translational and Applied Genomics |
| Abstract: | Determining the significance of a gene as cancer predisposing and specific variants in those genes as harmful or harmless is challenging. Integrating somatic data and germ line data to classify germ line variants in cancer predisposition genes requires careful consideration of sequencing limitations, tumor heterogeneity, available biomarker data, and potential confounding events. Ultimately, a critical amount of quality-controlled data provides evidence for the classification of genetic variants as pathogenic or benign. As medical decision-making is a potential consequence of variant interpretation a robust classification process is essential. © 2021 Elsevier Inc. All rights reserved. |
| Keywords: | germ line; somatic; signature; integration; hot spots |
| 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: | 169 |
| End Page: | 192 |
| Language: | English |
| DOI: | 10.1016/b978-0-12-820519-8.00022-3 |
| PROVIDER: | scopus |
| DOI/URL: | |
| Notes: | Book Chapter: 9, part of "Section 1: Theoretical chapters" -- Export Date: 1 April 2022 -- Source: Scopus |
