An integrated pipeline for detection of de novo and rare inherited mutations from trios-based next-generation sequencing
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De novo mutations (DNMs), arising from meiosis of the gametes of the parents (i.e., sperm and egg) and can be transmitted to their child, usually have severe biological or phenotypic consequences when they impact functionally important nucleotides in the genome. DNMs represent the most extreme form of rare genetic variation and make these mutations prime candidates for causing sporadic genetic diseases. The widespread availability of next-generation sequencing (NGS), such as whole exome sequencing (WES) and whole genome sequencing (WGS) provided a revolutionary way to identify the DNMs on the genome-wide scale. In addition, rare inherited mutation (homozygous and compound heterozygous mutations in autosomes and X-linked hemizygous mutations in males) also contribution to risk of sporadic disease, such as ASD and schizophrenia. Therefore, we have developed a novel and comprehensive platform, mirTrios, for the analysis of trios-based WES/WGS VCF results.

Highlights of mirTrios:

1. De novo and rare inherited variants identification and annotation

2. Candidate genes prioritization.

3. Known diagnostic variants identification

4. Non-coding region analysis

A typical screenshot of mirTrios:

mirTrios was developed for identification and comprehensive analysis the de novo and rare inherited variants with one or multiple trios samples based on high-throughput sequencing data starting from a VCF file (version 4). It uses reference gene definitions and hg19 genomic coordinates for annotation.

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