An integrated pipeline for detection of de novo and rare inherited mutations from trios-based next-generation sequencing

Home Analysis Reanalysis Results Useful links Feedback About us

Usage

What can mirTrios do for you?

The web server mirTrios was developed for identification and comprehensive analysis of the de novo and rare inherited variants with one or multiple trios samples based on high-throughput sequencing. Only VCF files (version 4) are allowed in mirTrios. It is intended to identify the de novo and rare inherited variants, comprehensively annotate them with ANNOVAR, predict damaging missense with SIFT, PhyloP, PolyPhen2, GERP++ and so on, predict disease associated risk gene based on deleterious variants (LOF: Nonsense, splice site, frameshift; predicted damaging missense ). It also provides a non-coding region analysis for WGS ( whole genome sequencing ) data.

How to use mirTrios server?

mirTrios provides an interface that is intuitive and easy to operate. Five steps to start mirTrios analysis:

• 1. Upload VCF files (version 4) and family list in Analysis page.
• 2. Parameters selection for identification, annotation and analysis the de novo and rare inherited variants.
• 3. Enter email address for results notification.
• 4. Click 'submit' to perform the analysis.
• 5. Retrieve the results of VCF file analysis according to the Job ID in Results page.

Workflow scheme

Copyright©2014, Beijing Institutes of Life Science, Chinese Academy of Sciences, Beijing, China.