Whole-exome sequencing data analysis bioinformatics software tools

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…

WES analysis steps

Most recent bioinformatics tools

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forestDNM
Desktop

forestDNM

Automates the discovery of de novo single-nucleotide variant (SNV) mutations…

Automates the discovery of de novo single-nucleotide variant (SNV) mutations (DNMs) from family genotype data (provided in a VCF). forestDNM is an R package with a command-line executable. It use a…

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myVCF
Desktop

myVCF

Permits to manage and browse VCF files in an efficient and easy way. myVCF is…

Permits to manage and browse VCF files in an efficient and easy way. myVCF is simple to use, offers a graphical interface, allowing the use by non-experts on almost every platform, and export the…

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POLYSOLVER
Desktop

POLYSOLVER POLYmorphic loci reSOLVER

Enables high precision Human Leukocyte Antigen (HLA)-typing even. POLYSOLVER…

Enables high precision Human Leukocyte Antigen (HLA)-typing even. POLYSOLVER uses relatively low coverage whole exome sequencing (WES) data and a subsequent mutation detection pipeline that is based…

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Variant Ranker
Web

Variant Ranker

Provides the ability to rank both coding and noncoding variants by encoding and…

Provides the ability to rank both coding and noncoding variants by encoding and integrating information from multiple sources. Variant Ranker is a web server for performing annotation, filtering and…

Most popular analytical software

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HomSI
Desktop

HomSI Homozygous Stretch Identifier from next-generation sequencing data

Identifies homozygous stretches using new generation sequencing (NGS) data.…

Identifies homozygous stretches using new generation sequencing (NGS) data. HomSI was designed to define homozygous stretches in consanguineous families from NGS data. To identify and visualize the…

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