Computational interpretation of human genetic variation

Human Genetics invites contributions on the theme of 'computational interpretation of human genetic variation' for a special issue edited by Profs. Yana Bromberg and Predrag Radivojac. Submissions may include but are not limited to review papers, comprehensive method evaluation, and original method descriptions where a significant unmet need in existing methodologies is identified and documented. Contributions with broad appeal are particularly encouraged.

Human variation and its effects will be considered in the broad sense, including germline and somatic, coding and noncoding, and single and multi-nucleotide variation. Effects on structure and function of single biological macromolecules (DNA, RNA, protein) as well as whole-genome structure and function are of interest. Contributions addressing developments in basic research as well as those with clinical significance are welcome.

More specifically, topics of interest include but are not limited to:

  • Effects of individual variants on protein, RNA, and DNA structure, dynamics, and function, including coding, regulatory and other genomic variation
  • Effects of individual variants on endophenotypes, such as molecular pathways and networks as well as the impact on the risk, development of and severity of disease
  • Interpretation of effects of groups of variants in Mendelian disease and complex phenotypes
  • Interpretation of groups of variants in the context of drug interactions and metabolism
  • Effects of variation on host-microbiome and/or host-pathogen interactions
  • Valuation of experimental and in silico mutagenesis and other variation-relevant biotechnology platforms
  • Data integration for genome interpretation
  • Collections of variant data and databases
  • Methods and benchmarks for the evaluation of the quality of variant effect prediction
  • Ethical issues focused on clinical deployment of variant impact interpretation tools, both for individual variants and groups of variants

Authors are strongly encouraged to discuss their potential submissions with the editors. For any additional questions and inquiries, please also contact Profs. Bromberg and Radivojac.

Submission deadline: December 31, 2021
Submit to Human Genetics
Expected publication: Last quarter of 2021

Yana Bromberg, Associate Professor, Rutgers University,
Predrag Radivojac, Professor, Northeastern University,