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

Whole-exome sequencing data analysis bioinformatics software tools

Most Recent Tools

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SV-AUTOPILOT
Desktop

SV-AUTOPILOT Structural Variation AUTOmated PIpeLine Optimization Tool

Standardizes the Structural Variation (SV) detection pipeline. SV-AUTOPILOT is…

Standardizes the Structural Variation (SV) detection pipeline. SV-AUTOPILOT is a pipeline that can be used on existing computing infrastructure in the form of a Virtual Machine (VM) Image. It…

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VarSeq
Web

VarSeq

Provides repeatable variant discovery and interpretation workflows for gene…

Provides repeatable variant discovery and interpretation workflows for gene panels, whole exomes, and whole genomes. VarSeq is a filtering and annotation engine which allows to sift through large…

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Mendel,MD
Web
Desktop

Mendel,MD

Organizes, annotates, filters and diagnoses patients with Mendelian Disorders…

Organizes, annotates, filters and diagnoses patients with Mendelian Disorders using Exome and Genome sequencing data or experimental validation and possible diagnosis. Mendel,MD combines several…

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HLA-NET
Dataset

HLA-NET

Allows validation and analyses of human leukocyte antigen (HLA)-typed…

Allows validation and analyses of human leukocyte antigen (HLA)-typed population samples and their connection with the GENE[VA] database. HLA-NET is a platform conceived as an evolving set of tools…

Most Popular Tools

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HomSI
Desktop
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ISPP
Desktop

ISPP Inheritance-mode Specific Pathogenicity Prioritization

A gene-level scoring system for the prediction of inheritance-specific…

A gene-level scoring system for the prediction of inheritance-specific pathogenicity. The ISPP outperformed other well-known methods including Haploinsufficiency, Recessive, Network centrality, Genic…

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