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

G T A T C G C T A
PyHLA
Desktop

PyHLA

Provides functions for association analysis, zygosity tests, and interaction…

Provides functions for association analysis, zygosity tests, and interaction tests between HLA alleles and diseases. PyHLA is a Python package which implements several methods for HLA association…

G T A T C G C T A
IsoMut
Desktop

IsoMut

Detects somatic mutations by considering all input samples and applying…

Detects somatic mutations by considering all input samples and applying filtering criteria at each genomic position. IsoMut is a robust method for calling unique mutations (SNVs and small indels)…

G T A T C G C T A
COV’COP
Desktop

COV’COP

Aims to rapidly identify copy number variations (CNVs) responsible for…

Aims to rapidly identify copy number variations (CNVs) responsible for inherited diseases among amplicons sequencing data generated by next-generation sequencing (NGS). Cov'Cop simultaneously…

G T A T C G C T A
HLA Completion
Desktop
Web

HLA Completion

Provides a method for statistical refinement of low or intermediate resolution…

Provides a method for statistical refinement of low or intermediate resolution HLA (Human Leucocyte Antigen) data, when a full resolution training data set from a similar population is available. HLA…

Most Popular Tools

G T A T C G C T A
HomSI
Desktop
G T A T C G C T A
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…

By using OMICtools you acknowledge that you have read and accepted the terms of the end user license agreement.