DeNovoCheck

DeNovoCheck is intended to be used for inheritance analysis in NGS tio data. For rare dominant Mendelian diseases, patient-parent trios are often used to reduce the number of candidate variants. The algorithm bases the inheritance prediction on the data available in the parental BAM files and allows for a fast and reliable selection of potential de novo variants.

Features

Identify de novo variants in NGS trio data
Command line parameters
Properties file configuration

Project Samples

Project Activity

See All Activity >

License

GNU General Public License version 2.0 (GPLv2)

Follow DeNovoCheck

DeNovoCheck Web Site

Other Useful Business Software

Our Free Plans just got better! | Auth0

With up to 25k MAUs and unlimited Okta connections, our Free Plan lets you focus on what you do best—building great apps.

You asked, we delivered! Auth0 is excited to expand our Free and Paid plans to include more options so you can focus on building, deploying, and scaling applications without having to worry about your security. Auth0 now, thank yourself later.

Try free now

Rate This Project

User Reviews

Be the first to post a review of DeNovoCheck!

Additional Project Details

Operating Systems

Cygwin, Linux, Mac

Languages

English

Intended Audience

Science/Research

User Interface

Command-line

Programming Language

Java

Related Categories

Java Bio-Informatics Software

Registered

2011-08-31

Similar Business Software

VSClinical

VSClinical allows for the clinical interpretation of variants based on ACMG & AMP guidelines. The VSClinical guided workflow enables following the American College of Medical Genetics (ACMG) guidelines used to identify and classify causal variants for inherited disease risk, cancer...

See Software
Geneious

Geneious Prime makes bioinformatics accessible by transforming raw data into visualizations that make sequence analysis intuitive and user-friendly. Simple sequence assembly and easy editing of contigs. Automatic annotation for gene prediction, motifs, translation, and variant calling. Genotype...

See Software
StrandOmics

Efficient reporting of NGS-based clinical tests requires a robust and mature platform for automatic variant prioritization, clinical interpretation and report generation. Strand Omics is a fast, HIPAA-compliant cloud-based platform that drives our clinical diagnostics practice. It has been honed...

See Software
QIAGEN CLC Genomics Workbench

QIAGEN CLC Genomics Workbench is a powerful solution that works for everyone, no matter the workflow. Cutting-edge technology and unique features and algorithms widely used by scientific leaders in industry and academia make it easy to overcome challenges associated with data analysis....

See Software
Illumina DRAGEN Secondary Analysis

The Illumina DRAGEN Secondary Analysis provides accurate, comprehensive, and efficient analysis of next-generation sequencing data. Graph reference genome and machine learning driving unprecedented accuracy. Provides ultra-efficient workflow; can fully process a 34x whole human genome in ~30...

See Software
Emedgene

Emedgene streamlines your tertiary analysis workflows for rare disease genomics and other germline research applications. Emedgene is designed to accelerate the time and certainty in user-defined variant interpretation, prioritization, curation, and research report generation. Enable greater...

See Software