1 / 1

All variant calls (VCF file)

Ion Proton Sequencing of paired Normal-tumor sample. +. All variant calls (VCF file). Sequencing Depth (Coverage file). OncoSeek Bioinformatics tool (Annotation, filtering and reporting tool). Low specificity variant filter Filters sequencing artifacts :

Download Presentation

All variant calls (VCF file)

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript


  1. Ion Proton Sequencing of paired Normal-tumor sample + All variant calls (VCF file) Sequencing Depth (Coverage file) OncoSeek Bioinformatics tool (Annotation, filtering and reporting tool) Low specificity variant filter Filters sequencing artifacts : High rate of occurrence or High population frequency Silent & non-exonic variants filter Filters synonymous, intronic and UTR variants Low sequencing depth filter & allelic fraction Filters variants with < 100X sequencing depth but retains them If reported in COSMIC database or >5% allelic fraction Germline variant filter Compares variants tumor and paired normal samples Filters variants with comparable variant frequency ( 10%) Somatic Mutations Confirmation by visual inspection of variants in IGV and absence in the paired normal Supplementary Figure 2

More Related