Premium
Assessing the Enrichment Performance in Targeted Resequencing Experiments
Author(s) -
Frommolt Peter,
Abdallah Ali T.,
Altmüller Janine,
Motameny Susanne,
Thiele Holger,
Becker Christian,
Stemshorn Kathryn,
Fischer Matthias,
Freilinger Tobias,
Nürnberg Peter
Publication year - 2012
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.22036
Subject(s) - biology , exome sequencing , exome , pipeline (software) , computational biology , dna sequencing , software , hum , genomics , genome , genetics , computer science , gene , mutation , operating system , art , performance art , art history
Target enrichment strategies are a very common approach to sequence a predefined part of an individual's genome using second‐generation sequencing technologies. While highly dependent on the technology and the target sequences selected, the performance of the various assays is also variable between samples and is influenced by the way how the libraries are handled in the laboratory. Here, we show how to find detailed information about the enrichment performance using a novel software package called NGSrich, which we developed as a part of a whole‐exome resequencing pipeline in a medium‐sized genomics center. Our software is suitable for high‐throughput use and the results can be shared using HTML and a web server. Finally, we have sequenced exome‐enriched DNA libraries of 18 human individuals using three different enrichment products and used our new software for a comparative analysis of their performance. Hum Mutat 33:635–641, 2012. © 2012 Wiley Periodicals, Inc.