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.

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