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

Time consumption

The time cost of the 2 trios samples: about thirty minutes.

De novo variants list

This panel showed all the annotated de novo variants. Users could screen these variants from distinct views, such as genomic region, mutation type, effect and dbSNP database.

You can make the diagnostic variants visible by clicking on the triangle button in the column, then associated information will be displayed on the next line, including information from OMIM, MGI, HGMD, ClinVar and Cosmic.

You can read more details by touching "show".

Rare inherited variants list

Detail information of de novo variants and rare inherited variants.

This panel showed all the annotated rare inherited variants. Users could screen these variants from distinct views, such as genomic region, mutation status, mutation type, effect and dbSNP database.

Disease associated gene list

This panel showed the risk probability of each gene generated by TADA.

Non-coding region analysis

This panel showed the analysis results of the non-coding region annotated by Funseq. We calculated the Pvalue of mutation rate in each non-coding region including DHS, TFP, TPM, PPI, Promoter, Enhancer and REG, compared with non-coding region average. The detailed information of non-coding region ( DHS, TFP, TPM, PPI, Promoter, Enhancer and REG ) described in Funseq.



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