Toward automation of germline variant curation in clinical cancer genetics Academic Article uri icon

Overview

MeSH Major

  • Attitude of Health Personnel
  • Biopsy
  • Breast Neoplasms
  • Medical Oncology

abstract

  • Automation of variant curation enables unbiased, fast, efficient delivery of results in both clinical and laboratory research. We highlight the advantages and weaknesses related to the programmable automation of variant classification. PathoMAN will aid in rapid variant classification by generating robust models using a knowledgebase of diverse genetic data ( https://pathoman.mskcc.org).

publication date

  • January 2019

Research

keywords

  • Academic Article

Identity

Language

  • eng

Digital Object Identifier (DOI)

  • 10.1038/s41436-019-0463-8

PubMed ID

  • 30787465

Additional Document Info