Main logo
?
tutorial arrow
×
Submit new tools
Share tools covering the current topic. Provide easy-to-follow guidelines to improve their usability.
Share new tools with the community
Sign up for free to promote the availability of bioinformatics tools

Low-frequency SNV identification software tools | Whole-genome sequencing data analysis

Accurate identification of low-frequency somatic point mutations in tumor samples has important clinical utilities. Although high-throughput sequencing technology enables capturing such variants while sequencing primary tumor samples, our ability…
G T A T C G C T A
VarScan
Desktop

VarScan

A platform-independent mutation caller for targeted, exome, and whole-genome…

A platform-independent mutation caller for targeted, exome, and whole-genome resequencing data generated on Illumina, SOLiD, Life/PGM, Roche/454, and similar instruments. The newest version, VarScan…

G T A T C G C T A
deepSNV
Desktop

deepSNV

Provides quantitative variant callers for detecting subclonal mutations in…

Provides quantitative variant callers for detecting subclonal mutations in ultra-deep sequencing experiments. DeepSNV is a comparative targeted deep-sequencing approach combined with a customised…

G T A T C G C T A
Strelka
Desktop

Strelka

Provides analysis of germline variation in small cohorts and somatic variation…

Provides analysis of germline variation in small cohorts and somatic variation in tumor/normal sample pairs. Strelka is a variant calling method building upon the innovative Strelka somatic variant…

G T A T C G C T A
LoFreq
Desktop

LoFreq

A sensitive and robust approach for calling single-nucleotide variants (SNVs)…

A sensitive and robust approach for calling single-nucleotide variants (SNVs) from high-coverage sequencing datasets, based on a formal model for biases in sequencing error rates. LoFreq adapts…

G T A T C G C T A
SiNVICT
Desktop

SiNVICT

A computational method that detects single nucleotide variants (SNVs) and short…

A computational method that detects single nucleotide variants (SNVs) and short indels from circulating cell-free DNA (cfDNA) sequencing data. SiNVICT increases the sensitivity and specificity of SNV…

G T A T C G C T A
Mutascope
Desktop

Mutascope

A sequencing analysis pipeline specifically developed for the identification of…

A sequencing analysis pipeline specifically developed for the identification of somatic variants present at low-allelic fraction from high-throughput sequencing of amplicons from matched tumor-normal…

G T A T C G C T A
RareVar
Desktop

RareVar

Identifies low-frequency single-nucleotide variants (SNVs) from high-throughput…

Identifies low-frequency single-nucleotide variants (SNVs) from high-throughput sequencing data. RareVar aims to push the detection limit to 0.5%–1% under standard sequencing experiment protocols.…

Information

By using OMICtools you acknowledge that you have read and accepted the terms of the end user license agreement.