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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

Experts in WES analysis

They share and annotate bioinformatics tools

Most recent bioinformatics tools

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DNM recurrence…
Web

DNM recurrence calculator

Estimates the probability of recurrence of disease causing mutations in the…

Estimates the probability of recurrence of disease causing mutations in the clinical setting. DNM recurrence calculator assesses the probability of de novo mutation (DNM) recurrence for a use in…

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León-NoveloEtAl…
Desktop

León-NoveloEtAl2017

Allows simultaneous testing of allelic imbalance (AI) and differences in AI…

Allows simultaneous testing of allelic imbalance (AI) and differences in AI across environments. This Bayesian model allows formal testing of AI between environments, while accounting for potential…

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Saddlebags
Desktop

Saddlebags

Generates human leukocyte antigen (HLA) full-length allele sequence…

Generates human leukocyte antigen (HLA) full-length allele sequence submissions. Saddlebags was developed to streamline the process of preparing allele submissions for Immuno Polymorphism…

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HAPDeNovo
Desktop

HAPDeNovo

Sifts true de novo mutations (DNMs) from noise. HAPDeNovo drastically…

Sifts true de novo mutations (DNMs) from noise. HAPDeNovo drastically eliminates false positive DNMs without decreasing the detection rate of true positives. It can be used to re-calibrate the DNM…

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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CNVkit
Desktop

CNVkit

A software tool for copy number detection that uses both the targeted reads and…

A software tool for copy number detection that uses both the targeted reads and the nonspecifically captured off-target reads to infer copy number evenly across the genome. This combination achieves…

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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

Extracts copy-number signal from noisy read depth by leveraging the large-scale…

Extracts copy-number signal from noisy read depth by leveraging the large-scale nature of sequencing projects to discern patterns of read-depth biases. XHMM is a statistical toolset that normalizes…

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