Analysis Overview


DNArails Genomics Analysis Platform presents an overview of analysis results regarding the distribution trend of genetic variations. Information with filtered variants in CANCER-RELATED, DISEASE-RELATED, and FUNCTIONAL PREDICTION is easily accessible on three independent pages, showing different charts with unique features. Each analysis can generate more than twenty useful graphs and tables.

 


1. Analysis Information & Customized Intelligent Filtering

You can find the analysis number and name on the top of overview page. Click VIEW DETAIL can see more information about this analysis. Operation is the same as the Analyses section of DATA MANAGEMENT.

The characteristics of each sample can be predominated and estimated by observing the distribution of candidate genetic variations through multiple perspectives. All of the dynamic graphs can show real-time status after filtering.  For more details about how to use filtering functions, please visit Set filtering parameters.


2. Number of Variants and Genes

The two concentric circles represent the status of variants (blue) and genes (green) counting. The number at the center of circle is based on your filtering criteria. If there have some variants or genes being removed, you could see the gray circle and immediately know the filtering results.


3. Classification of Variants

The distribution of variants by impact level and annotated status. According to the annotated results of location and functions from RefSeq database, we divided the all variants into five types of impact level: 

  • High (frameshift variant / stop gained / stop lost / splicing)
  • Moderate (nonsynonymous SNV / nonframshift varinat)
  • Low (synonymous SNV)
  • Modifier (intronic & intergenic variant / UTR3 / UTR5 / upstream / downstream),
  • Unknown (cannot be defined)

Finally, all of the variants will be divided in three types. If variants have been both reported in dbSNP and ClinVar, it will be classified in "SNP in CinVar". If variants only reported in dbSNP that will be classified in "SNP Only". Not of above are classified in "Novel".


4. Disease Database

The distribution of all variants in public disease-related and cancer-related databases including GWAS, ClinVar, COSMIC, ICGC, and NCI60.


5. Chromosome View

The proportion of variants presented in whole chromosomes. We provide you the three type of variants proportion in each chromosome including the variants of total number, impact level, and research status. You can zoom in or fix area to view the detail.


6. Top 5 Genes View

The proportion of top five variant numbers in human genes. We provide you the three type of variants proportion in each chromosome including the variants of total number, impact level, and research status. You can zoom in or fix area to view the detail.