Please use this identifier to cite or link to this item:
http://hdl.handle.net/2445/125834
Title: | Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer |
Author: | Feliubadaló i Elorza, Maria Lídia Tonda, Raul Gausachs Romero, Mireia Trotta, Jean Rémi Castellanos, Elisabeth López Dóriga Guerra, Adriana Teulé-Vega, Àlex Tornero, Eva Valle Domínguez, Jesús del Gel, Bernat Gut, Marta Pineda Riu, Marta González, Sara Menéndez Vilà, Mireia Navarro, Matilde Capellá, G. (Gabriel) Gut, Ivo G. Serra Arenas, Eduard Brunet, Joan Beltran i Agulló, Sergi Lázaro García, Conxi |
Keywords: | Càncer Malalties hereditàries Diagnòstic Cribratge genètic Cancer Genetic diseases Diagnosis Genetic screening |
Issue Date: | 4-Jan-2017 |
Publisher: | Nature Publishing Group |
Abstract: | Next generation sequencing panels have been developed for hereditary cancer, although there is some debate about their cost-effectiveness compared to exome sequencing. The performance of two panels is compared to exome sequencing. Twenty-four patients were selected: ten with identified mutations (control set) and fourteen suspicious of hereditary cancer but with no mutation (discovery set). TruSight Cancer (94 genes) and a custom panel (122 genes) were assessed alongside exome sequencing. Eightythree genes were targeted by the two panels and exome sequencing. More than 99% of bases had a read depth of over 30x in the panels, whereas exome sequencing covered 94%. Variant calling with standard settings identified the 10 mutations in the control set, with the exception of MSH6 c.255dupC using TruSight Cancer. In the discovery set, 240 unique non-silent coding and canonic splice-site variants were identified in the panel genes, 7 of them putatively pathogenic (in ATM, BARD1, CHEK2, ERCC3, FANCL, FANCM, MSH2). The three approaches identified a similar number of variants in the shared genes. Exomes were more expensive than panels but provided additional data. In terms of cost and depth, panels are a suitable option for genetic diagnostics, although exomes also identify variants in non-targeted genes. |
Note: | Reproducció del document publicat a: https://doi.org/10.1038/srep37984 |
It is part of: | Scientific Reports, 2017, num. 7, p. 37984 |
URI: | http://hdl.handle.net/2445/125834 |
Related resource: | https://doi.org/10.1038/srep37984 |
ISSN: | 2045-2322 |
Appears in Collections: | Articles publicats en revistes (Ciències Clíniques) Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
Files in This Item:
File | Description | Size | Format | |
---|---|---|---|---|
676151.pdf | 1.38 MB | Adobe PDF | View/Open |
This item is licensed under a
Creative Commons License