Open AccessCopyDetective: Detection threshold–aware copy number variant calling in whole-exome sequencing data
Author(s) -
Sarah Sandmann,
Marius Wöste,
Aniek O. de Graaf,
Birgit Burkhardt,
Joop H. Jansen,
Martin Dugas
Publication year - 2020
Publication title -
gigascience
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.947
H-Index - 54
ISSN - 2047-217X
DOI - 10.1093/gigascience/giaa118
Subject(s) - copy number variation , exome sequencing , exome , computer science , set (abstract data type) , computational biology , genetics , biology , gene , genome , mutation , programming language
Copy number variants (CNVs) are known to play an important role in the development and progression of several diseases. However, detection of CNVs with whole-exome sequencing (WES) experiments is challenging. Usually, additional experiments have to be performed.
Accelerating Research
Robert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom
Address
John Eccles HouseRobert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom