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Call for Papers: Clinical interpretation of genome variation

Guest Editors: Heidi Rehm and Douglas Fowler

New Content Item Genome Medicine is pleased to announce a special issue entitled ‘Clinical interpretation of genome variation’ for publication in Fall 2019, guest edited by Dr Heidi Rehm from the Broad Institute and MGH and Dr Douglas Fowler from the University of Washington. As next-generation sequencing enters the clinic, research and clinical communities still face major challenges in characterizing genome variation including accurate variant classification, interpretation of variants of uncertain significance, understanding non-coding variants, assessing causality for diagnosis as well as addressing incidental findings. This special issue aims to capture the advances made in understanding genome variation in the clinical context covering the breadth of human disease including Mendelian and complex diseases and rare and common diseases; we aim to highlight novel approaches for accurate variant classification, functional assays for clinical validity, genome-guided diagnostics and prognostics and insights into disease mechanisms.

We are now inviting the submission of Research, Method, Software and Database manuscripts of outstanding interest describing advances in understanding and interpreting genome variation in the context of translational and clinical research on the following topics:

  • Genotype-phenotype mapping
  • Ethnicity and ancestry in genome variation
  • The healthy genome
  • Accurate variant classification (including variant calling refinement approaches)
  • Bioinformatic tools and resources for clinical interpretation
  • Functional assays for variants
  • Interpreting variants of uncertain significance, non-coding, structural, somatic and germline variation
  • Clinical validity
  • Electronic health records, omics and integrative analyses
  • Clinical actionability and the druggable genome
  • Standards/guidelines for clinical interpretation
  • Frameworks for clinical implementation
  • Genome editing and preclinical disease modelling
  • Early detection (including liquid biopsies)
  • Machine learning in disease classification and diagnostics
  • Polygenic medicine
  • Risk and prognosis prediction
  • Diagnostics and precision therapies

We are particularly interested in encouraging collaboration between basic science researchers working on mechanistic and functional genomics, and clinical experts, who may provide guidance on interpretation using existing guidelines and frameworks for clinical context. Guest Editors may be able to provide guidance on fostering such collaborations; please contact the editorial team to discuss further.

Submission Deadline extended: 15 June 2019

To submit your manuscript, please use the Genome Medicine online submission system and indicate in your covering letter that you would like the article to be considered for the ‘Clinical interpretation of genome variation’ special issue. If you would like to enquire about the suitability of a manuscript for consideration, please email

This collection of articles has not been sponsored and articles will undergo the journal’s standard peer-review process. The Guest Editor declares that they have no competing interests. The Guest Editor serves an advisory role to guide the scope of the special issue and commissioned content; final editorial decisions lie with the Editor.