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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MIRA
Desktop

MIRA Mutation Identification for RNA Alterations

Allows users to identify and characterize somatic mutation patterns in exons…

Allows users to identify and characterize somatic mutation patterns in exons and introns from coding and non-coding genes. MIRA can detect deep intronic mutations. It defines significantly mutated…

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TADA-A
Desktop

TADA-A TADA-Annotations

Allows user to analyze de novo mutations (DNMs) from whole-genome sequencing…

Allows user to analyze de novo mutations (DNMs) from whole-genome sequencing (WGS) data. TADA-A is a statistical framework that can take an arbitrary number of possibly overlapping annotations. It…

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HLA DB
Dataset

HLA DB HLA Database

Holds information about human leukocyte antigen (HLA). HLA DB is a repository…

Holds information about human leukocyte antigen (HLA). HLA DB is a repository system containing HLA haplotype data and disease-related information. This resource can be browse by two ways: (1) a…

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ERDS-pe
Desktop

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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Pynnotator
Desktop

Pynnotator

Annotates Variant Call Formats (VCFs) generated from build GRCh37. Pynnotator…

Annotates Variant Call Formats (VCFs) generated from build GRCh37. Pynnotator was designed to annotate VCF files (Exomes or Genomes) from patients with Mendelian Disorders. The software uses…

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XHMM
Desktop

XHMM eXome-Hidden Markov Model

Uses principal component analysis (PCA) normalization and a hidden Markov model…

Uses principal component analysis (PCA) normalization and a hidden Markov model (HMM) to detect and genotype copy number variation (CNV) from normalized read-depth data from targeted sequencing…

Curators for WES analysis

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