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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
ANAQUIN: a software toolkit for the analysis of spike-in controls for next generation sequencing
Ted Wong1, Ira W Deveson1,2, Simon A Hardwick1,3
1Genomics and Epigenetics Division, Garvan Institute of Medical Research, Sydney, NSW, Australia.
Summary:
Spike-in controls are synthetic nucleic-acid sequences that are added to a user's sample and constitute internal standards for subsequent steps in the next generation sequencing workflow.
Availability And Implementation:
: The software is implemented in C ++/R and is freely available under BSD license. The source code is available from github.com/student-t/Anaquin , binaries and user manual from www.sequin.xyz/software and R package from bioconductor.org/packages/Anaquin.
Contact:
anaquin@garvan.org.au or t.mercer@garvan.org.au.
Supplementary Information:
Supplementary data are available at Bioinformatics online.

