(Crisan et al., 2012) Mutation discovery in regions of segmental cancer genome amplifications with CoNAn-SNV: a mixture model for next generation sequencing of tumors. PloS one.
PMID: 22916110
(Mainzer et al., 2015) Isaac, the Illumina variant calling workflow. bioRxiv.
DOI: 10.1101/031021
(Liu et al., 2013) Variant callers for next-generation sequencing data: a comparison study. PloS one.
PMID: 24086590
(Nielsen et al., 2011) Genotype and SNP calling from next-generation sequencing data. Nature reviews Genetics.
PMID: 21587300
(Altmann et al., 2012) A beginners guide to SNP calling from high-throughput DNA-sequencing data. Human genetics.
PMID: 22886560
(Pabinger et al., 2013) A survey of tools for variant analysis of next-generation genome sequencing data. Briefings in bioinformatics.
PMID: 23341494
(Yi et al., 2014) Performance comparison of SNP detection tools with illumina exome sequencing data-an assessment using both family pedigree information and sample-matched SNP array data. Nucleic acids research.
PMID: 24831545
(Pirooznia et al., 2014) Validation and assessment of variant calling pipelines for next-generation sequencing. Human genomics.
PMID: 25078893