Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer

Home | About RECERCAT | Contact

Català | Castellano

All of RECERCAT

By Communities &
Collections By Defense Date By Authors By Titles By Subject

This Collection

By Defense Date By Authors By Titles By Subject

Statistics

View Statistics All RECERCAT

My RECERCAT

Other repositories directory

RECERCAT Home > Universitat Autònoma de Barcelona > Articles escrits per personal UAB o publicats per la universitat > View document

Title:	Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer
Author:	Feliubadaló, Lidia; Tonda, Raúl; Gausachs, Mireia; Trotta, Jean-Rémi; Castellanos, Elisabeth; López-Doriga, Adriana; Teulé, Àlex; Tornero, Eva; del Valle, Jesús; Gel, Bernat; Gut,Marta; Pineda,Marta; González,Sara; Menéndez,Mireia; Navarro, Matilde; Capellá, Gabriel; Gut, Ivo; Serra, Eduard; Brunet, Joan; Beltran i Agulló, Sergi; Lázaro, Conxi
Abstract:	Acknowledgements: We thank all patients who contributed to this study. The work was supported by grants from the Instituto de Salud Carlos III (ISCIII, MINECO) (operating grants: PI13/00285 and RD12/0036/0008 awarded to C.L. and PIE13/00022 and RD12/0036/0031 awarded to G.C.) and confunded by FEDER funds/European Regional Development Fund (ERDF) - a way to Build Europe-"// FONDOS FEDER "una manera de hacer Europa", the Generalitat de Catalunya (Government of Catalonia) (operating grant 2014SGR338, awarded to G.C.) and the Asociación Española Contra el Cáncer (operating grants, 2010 Grupos Estables, awarded to G.C.). J.B. received a Spanish Society of Medical Oncology grant. This activity is sponsored by the ISCIII Ministerio de Economía y Competitividad (PT13/0001/0044).
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.
Publication date:	2021-09-11
Rights:	open access Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original. https://creativecommons.org/licenses/by/4.0/
Document type:	Article
Published by:
Share:
Uri:	https://ddd.uab.cat/record/196268

Show full item record

All of RECERCAT

This Collection

Statistics

My RECERCAT

Related documents

Other documents of the same author