ExpansionHunter: A sequence-graph based tool to analyze variation in short tandem repeat regions
Keyword(s):
SummaryWe describe a novel computational method for genotyping repeats using sequence graphs. This method addresses the long-standing need to accurately genotype medically important loci containing repeats adjacent to other variants or imperfect DNA repeats such as polyalanine repeats. Here we introduce a new version of our repeat genotyping software, ExpansionHunter, that uses this method to perform targeted genotyping of a broad class of such loci.Availability and implementationExpansionHunter is implemented in C++ and is available under the Apache License Version 2.0. The source code, documentation, and Linux/macOS binaries are available at https://github.com/Illumina/ExpansionHunter/[email protected]
Keyword(s):
Keyword(s):
Keyword(s):
2019 ◽
Vol 43
◽
pp. 102150
◽
Keyword(s):
2014 ◽
Vol 8
(1)
◽
pp. 64-67
◽
Keyword(s):
1995 ◽
Vol 108
(1)
◽
pp. 31-35
◽
Keyword(s):
1994 ◽
Vol 65
(3)
◽
pp. 169-175
◽