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Table 1 Comparison of OncoPaD with other resources. Six different features are included: (1) the input genes for panel design; (2) whether the resource allows to estimate (and fine-tune) the cost-effectiveness of the designed panel; (3) whether the resource provides additional ancillary annotations for mutations included in the panel; (4) whether the tool is a web service easy to maintain, evolve and use or a static resource; (5) the type of output provided to the user; and (6) the level of customization of the panel that the user can attain

From: Rational design of cancer gene panels with OncoPaD

 

TEAM [15]

Martinez et al. [16]

Design studio

OncoPaD

Input genes

• Genes with HIMs from COSMIC

• User’s mutation list

Genes with NSMs in at least 4 % of samples in cohort 1

User’s gene list

• Driver genes in 28 cancer types

• Genes with drug biomarkers

• User’s gene list

In silico performance

 

Fraction of tumors from cohort 1 with NSMs

Kbps included in the panel

• Fraction of tumors from cohort 2 with PAMs

• Kbps included in the panel

Metadata of panel mutations

Functional impact (SIFT and Polyphen)

  

• Validated oncogenic mutations

• Drug biomarker mutations

Type of resource

Web service

Static panels

Web service

Web service

Output

Json file with selection of genes

List of ranked pan-cancer and per cancer type genes

• Bed file

• Panel primers

• Reports with information on mutations included in the panel and performance (interactive HTML/PDF/Excel/Bed file)

User customization options

• Filter by genes with HIMs

• Filter by genes found in COSMIC

• Add/remove genes

 

Input gene list

• Cancer type(s) to design the panel

• Panel input genes (pre-compiled lists of drivers/biomarkers and/or user defined).

• Fine-tune the design of the panel

  1. cohort 1: 3192 samples from ten cancer types; cohort 2: 7298 samples from 28 cancer types
  2. HIM high impacting mutation, PAM protein-affecting mutation, NSM non-synonymous mutation