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

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HMZDelFinder
Desktop

HMZDelFinder

Uses whole exome sequencing (WES) data to identify rare and intragenic…

Uses whole exome sequencing (WES) data to identify rare and intragenic homozygous and hemizygous (HMZ) deletions. HMZDelFinder is an algorithm that enables evaluation of the distribution of 4866…

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DNMFilter
Desktop

DNMFilter De Novo Mutation Filter

Classifies candidates as true or false de novo mutations. DNMFilter uses…

Classifies candidates as true or false de novo mutations. DNMFilter uses gradient boosting as the classification algorithm to filter De Novo Mutations (DNMs) identified in parent–offspring trios.…

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denovolyzeR
Desktop

denovolyzeR

Provides tools for the analysis of de novo coding sequence variants.…

Provides tools for the analysis of de novo coding sequence variants. denovolyzeR is an R implementation of a statistical framework for the analysis of de novo genetic variants. It estimates the…

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TrioDeNovo
Desktop

TrioDeNovo

Evaluates evidence of de novo mutation (DNM) mainly based on the data and…

Evaluates evidence of de novo mutation (DNM) mainly based on the data and adjusts post-hoc the effect of mutation rates on the calling through prior odds. TrioDeNovo is applicable to exome sequencing…

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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