sprites |
2016 |
sv |
|
https://academic.oup.com/bioinformatics/article/32/12/1788/1743630/Sprites-detection-of-deletions-from-sequencing |
|
splazers |
2012 |
indel |
|
https://academic.oup.com/bioinformatics/article/28/5/619/248213/Detecting-genomic-indel-variants-with-exact |
|
MindTheGap |
2014 |
insertions |
c elegans |
https://academic.oup.com/bioinformatics/article/30/24/3451/2422179/MindTheGap-integrated-detection-and-assembly-of |
http://gatb.inria.fr/software/mind-the-gap/ |
Factera |
2015 |
SV/fusion |
|
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4296148/ |
https://factera.stanford.edu/ |
dindel |
2011 |
indels |
Sanger, slow |
http://europepmc.org/abstract/MED/20980555 |
N/A |
piCALL |
2011 |
indel |
scripps, exon |
https://www.ncbi.nlm.nih.gov/pubmed/21653520 |
|
svseq 1 & 2 |
2011 |
SV |
split-read |
https://www.ncbi.nlm.nih.gov/pubmed/21994222 |
|
Spanner |
2011 |
SV |
|
https://www.ncbi.nlm.nih.gov/pubmed/21293372 |
|
SPLINTER |
2010 |
SNV |
SNPSeeker + indels |
https://www.ncbi.nlm.nih.gov/pubmed/21041413/ |
|
bam2mpg |
2010 |
SNV |
|
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2945191/ |
|
svmerge |
2010 |
|
|
|
|
snvmix |
2010 |
SNV |
early cancer-specific, with low purity expectations |
https://academic.oup.com/bioinformatics/article/26/6/730/245170/SNVMix-predicting-single-nucleotide-variants-from |
|
cnD |
2010 |
cnv |
|
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2820678/ |
|
dna sudoku |
2009 |
SNV |
overlapping pooling design |
https://www.ncbi.nlm.nih.gov/pubmed/19447965/ |
|
breseq |
2009 |
SNV |
binomial model |
https://www.researchgate.net/publication/232776704_Genome_evolution_and_adaptation_in_a_long-term_experiment_with_Escherichia_coli |
|
maq |
2009 |
SNV |
bayesian model includes sequencing errors |
https://www.ncbi.nlm.nih.gov/pubmed/18714091 |
|
SNPSeeker |
2009 |
SNV |
pooling. compares observed allele frequencies against the distribution of sequencing errors as measured by the Kullback Leibler (KL) distance |
https://www.ncbi.nlm.nih.gov/pubmed/19252504/ |
|
modil |
2009 |
indels |
|
http://www.nature.com/nmeth/journal/v6/n7/full/nmeth.f.256.html |
|
VariationHunter |
2009 |
SV |
|
http://genome.cshlp.org/content/19/7/1270.short |
|
mrcanavar |
2009 |
cnv |
|
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2875196/ |
|
maq |
2008 |
SNV |
|
https://www.ncbi.nlm.nih.gov/pubmed/18714091 |
|
PEM |
2007 |
SV |
paired-end |
http://science.sciencemag.org/content/318/5849/420 |
|
PolyPhred |
2006 |
SNV |
|
https://www.ncbi.nlm.nih.gov/pubmed/16493422/ |
|
SNPDetector |
2005 |
SNV |
|
https://www.ncbi.nlm.nih.gov/pubmed/16261194/ |
|
novoSNP |
2005 |
SNV |
|
https://www.ncbi.nlm.nih.gov/pubmed/15741513/ |
|
ssahaSNP |
2001 |
SNV |
|
https://www.ncbi.nlm.nih.gov/pubmed/11591649/ |
|
polybayes |
1999 |
SNV |
|
https://www.ncbi.nlm.nih.gov/pubmed/10581034/ |
|