neoANT-HILL: an integrated tool for identification of potential neoantigens

Ana Carolina M F Coelho1, André L Fonseca1, Danilo L Martins1

  • 1Bioinformatics Multidisciplinary Enviroment (BioME), Institute Metropolis Digital, Federal University of Rio Grande do Norte, UFRN, Natal, Brazil.

BMC Medical Genomics
|February 24, 2020
PubMed
Abstract

Insights

Identifying cancer neoantigens is crucial for immunotherapy. Our new tool, neoANT-HILL, efficiently detects potential neoantigens from Next Generation Sequencing (NGS) data, improving accuracy and reducing false positives.

Area of Science:

  • Immunogenomics
  • Cancer Research
  • Bioinformatics

Background:

  • Cancer neoantigens are key targets for immunotherapy due to their ability to trigger anti-tumor responses.
  • Neoantigens arise from somatic mutations in cancer cells, leading to altered proteins.
  • Accurate neoantigen identification is challenging due to a high rate of false positives.

Purpose of the Study:

  • To develop an efficient and automated pipeline for identifying potential cancer neoantigens.
  • To improve neoantigen detection from Next Generation Sequencing (NGS) data using integrated immunogenomic analyses.

Main Methods:

  • Developed neoANT-HILL, an automated pipeline integrated with immunogenomic analyses.
  • Packaged the pipeline in a Docker image for simplified setup and use.
  • Applied neoANT-HILL to The Cancer Genome Atlas (TCGA) melanoma dataset and RNA-Seq data.

Main Results:

  • neoANT-HILL successfully identified putative neoantigens, including those from RAC1:P29S and SERPINB3:E250K mutations in melanoma.
  • The pipeline demonstrated high sensitivity and specificity in identifying potential neoantigens from RNA-Seq data.
  • The tool is user-friendly with a graphical interface, capable of processing multiple samples.

Conclusions:

  • neoANT-HILL provides an efficient and user-friendly solution for neoantigen prediction.
  • The tool integrates multiple analyses, including RNA-Seq data and immune cell quantification, for enhanced neoantigen discovery.
  • neoANT-HILL is available via GitHub, facilitating its adoption in cancer immunotherapy research.