Whole-exome sequencing data analysis bioinformatics software tools

WES analysis steps

Targeted resequencing (TR) by massively parallel sequencing, which includes whole-exome sequencing (WES), is a well-established and cost-effective means to analyse specific regions of a genome. Previous studies on genetic diversity (e.g. the 1000 genomes project; Genomes Project…

Whole-exome sequencing data analysis bioinformatics software tools

Most Recent Tools

Desktop app
G T A T C G C T A Whole Exome… Whole Exome Sequencing Analysis Pipeline

WES Whole Exome Sequencing Analysis Pipeline

Processes next-generation sequencing (NGS) data through a semi-automated…

Processes next-generation sequencing (NGS) data through a semi-automated pipeline. WES encompasses four modules: mapping, filtering, realignment and recalibration, and variant calling. It uses a…

Desktop app
G T A T C G C T A Distribution Based… Distribution Based detection of Duplication…

DB2 Distribution Based detection of Duplication Boundaries

Uses discordantly aligned reads, taking into account the distribution of…

Uses discordantly aligned reads, taking into account the distribution of fragment length to predict tandem duplications along with their breakpoints on a donor genome. DB2 method fine tunes the…

Desktop app
G T A T C G C T A EthSEQ EthSEQ

EthSEQ

An R script that allows to infer ethnicity of a set of samples for which whole…

An R script that allows to infer ethnicity of a set of samples for which whole exome sequencing (WES) data is available from differential SNP genotypes profiles. EthSEQ combines the 1,000 Genomes…

G T A T C G C T A Phenotip Phenotip

Phenotip

A searchable database of fetal syndromes. The Phenotip database relies on a…

A searchable database of fetal syndromes. The Phenotip database relies on a hierarchically structured tree of antenatal sonographic marker. Parent markers are organized by organ system and grow in…

Most Popular Tools

Desktop app
G T A T C G C T A Homozygous Stretch… Homozygous Stretch Identifier from…

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