An integrated pipeline for detection of de novo and rare inherited mutations from trios-based next-generation sequencing
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mirTrios was developed for detection and comprehensive analysis the de novo and rare inherited variants with one or multiple trios samples based on next-generation sequencing.

It is intended to detect the de novo and rare inherited variants, comprehensively annotate them with ANNOVAR, predict damaging missense with SIFT, PhyloP, PolyPhen2, GERP++ and so on, prioritize causative gene in sporadic disorders based on deleterious variants (LOF: Nonsense, splice site, frameshift; predicted damaging missense ). It also provides a non-coding region analysis for whole genome sequencing (WGS) data.

If you have any comment, suggestion or question, please contact Jinchen Li or feedback below directly.

This will be an important step for our future update.


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