Variant detection tools for Sanger sequencing analysis.
Web app
GLASS GLASS

GLASS

Reports sequence variants from Sanger sequence trace data in a standardized way…

Reports sequence variants from Sanger sequence trace data in a standardized way as recommended by the Human Genome Variation Society (HGVS). GLASS is an intuitive way for novice and experienced users…

Web app
CHILD CHILD

CHILD

A computer program for the detection of small sub-populations of molecules…

A computer program for the detection of small sub-populations of molecules carrying indels using ABI trace files. CHILD compares the sequence of the strongest base calls at each position with the…

Desktop app
GeneScreen GeneScreen

GeneScreen

A desktop program that analyses capillary electropherograms and compares their…

A desktop program that analyses capillary electropherograms and compares their sequences with a known reference for identification of mutations. The detected sequence variants are then made available…

Desktop app
PeakHeights PeakHeights

PeakHeights

A tool for detecting germline microsatellite instability in mismatch…

A tool for detecting germline microsatellite instability in mismatch repair-deficient subjects. PeakHeights can quickly and simply determine a parameter called the gMSI ratio, based on alterations in…

Desktop app
Pine Alignment and… Pine Alignment and SNP Identification Pipeline

PineSAP Pine Alignment and SNP Identification Pipeline

Provides a high-throughput solution to single nucleotide polymorphism (SNP)…

Provides a high-throughput solution to single nucleotide polymorphism (SNP) prediction using multiple sequence alignments from re-sequencing data. This pipeline integrates a hybrid of customized…

Desktop app
QSVanalyser QSVanalyser

QSVanalyser

Allows high-throughput quantification of the proportions of DNA sequences…

Allows high-throughput quantification of the proportions of DNA sequences containing SNVs. In reconstruction experiments, QSVanalyzer accurately estimated the known relative proportions of SNVs. By…

Desktop app
Automatic Comparative… Automatic Comparative Sequence Analysis

AutoCSA Automatic Comparative Sequence Analysis

A mutation detection program designed to detect small mutations (1-50 bases) in…

A mutation detection program designed to detect small mutations (1-50 bases) in sequence traces. AutoCSA is capable of detecting both homozygous and heterozygous base substitutions, as well as small…

Desktop app
DiSNPindel DiSNPindel

DiSNPindel

A computation tool to improve the detection of intra-individual SNPs and InDels…

A computation tool to improve the detection of intra-individual SNPs and InDels in direct amplicon sequencing of a diploid. Neither reference sequence nor additional sample was required. Using two…

Desktop app
InSNP InSNP

InSNP

Detects substitution and indel SNPs in sequencing traces. InSNP uses simple…

Detects substitution and indel SNPs in sequencing traces. InSNP uses simple algorithms to detect the mutations and presents the sequences in compact visualizations that let you quickly decide which…

Desktop app
novoSNP novoSNP

novoSNP

A software package that conscientiously discovers single nucleotide…

A software package that conscientiously discovers single nucleotide polymorphisms (SNPs) and insertion-deletion polymorphisms (INDELs) in sequence trace files in a fast, reliable, and user-friendly…

Web app
PrimeIndel PrimeIndel

PrimeIndel

A software tool used for aligning multiple overlapping sequence reads by…

A software tool used for aligning multiple overlapping sequence reads by in-silico doubly heterozygous sequence (DHS) formation. The indel size of the in-silico formed DHS indicates the positions in…

Desktop app
DnaSP DnaSP

DnaSP

A software package for the analysis of nucleotide polymorphism from aligned DNA…

A software package for the analysis of nucleotide polymorphism from aligned DNA sequence data.

Desktop app
Variant Reporter… Variant Reporter Software

Variant Reporter Software

The robust algorithms will call SNPs, mutations, insertions, deletion and…

The robust algorithms will call SNPs, mutations, insertions, deletion and heterozygous insertions⁄deletions for data generated using the Applied Biosystems Genetic Analyzers.

Desktop app
PolyPhred PolyPhred

PolyPhred

Compares fluorescence-based sequences across traces obtained from different…

Compares fluorescence-based sequences across traces obtained from different individuals to identify heterozygous sites for single nucleotide substitutions. PolyPhred is not a standalone application.…

Desktop app
Web app
Poly Peak Parser Poly Peak Parser

Poly Peak Parser

An online tool that is able to separate chromatogram data containing ambiguous…

An online tool that is able to separate chromatogram data containing ambiguous base calls into wild-type and mutant allele sequences, revealing the nature of the indel from a single sequencing run…

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