Working Groups

SNV Working Group

The SNV Working Group aims to standardize detection methods for identifying mosaic single-nucleotide variants and indels in human tissues, and to apply these tools to build a comprehensive, cross-tissue mutation catalog as a shared resource. It will also investigate developmental and aging-associated patterns to clarify when mosaicism arises and how it impacts biological processes.

Working Group Leads

SMaHT Reference Assembly Working Group

The SMaHT Reference Assembly Working Group aims to establish best practices for using emerging telomere-to-telomere assemblies and graph-based genome representations to improve our understanding of somatic variation. This includes establishing diploid assemblies and matched genome graphs for the SMaHT donors, as well as using donor-specific assemblies and pangenomes to evaluate somatic variants genome-wide, especially within traditionally challenging to study regions of our genome.

Working Group Leads

ELSI Working Group

The ELSI Working Group is a collaborative, interdisciplinary team designed to provide insights and feedback to the SMaHT Network about ethical, legal, and social implications of the consortium’s work and products. We help interpret and synthesize community stakeholder perspectives and also help guide both the SMaHT Network and the ELSI-specific SMaHT sub-study (IDECIDE) to ensure both projects are incorporating and honoring stakeholder perspectives and needs.

Working Group Leads

Policy Working Group

The SMaHT Policy Working Group develops clear and consistent guidelines in support of the SMaHT Network’s objectives. These include, but are not limited to, policies pertaining to publications, privacy, data use and sharing, governance, code of conduct, and associate membership. We draft policies collaboratively within our Working Group and across the Network for feedback and approval. Once finalized, policies are published, promoting transparency and accountability. Approved policies are intermittently reviewed and updated.

Working Group Leads

Benchmarking Working Group

The Benchmarking Working Group leads the development of robust standards for evaluating technologies and methods used to detect somatic mutations. Through the design of innovative benchmarking experiments and generation of high-quality reference datasets, the group enables rigorous assessment of accuracy, sensitivity and specificity across platforms, and analytical methods. Its efforts are central to ensuring reproducibility, transparency, and progress in the study of somatic mosaicism.

Working Group Leads

OutSMaHT Working Group

The OutSMaHT Working Group facilitates educational and training opportunities that engage the broader scientific community. We promote the SMaHT Network through social media platforms, online informational videos and tutorials, and organize workshops around SMaHT products and data releases. We also maintain the Network’s public-facing website and respond to user feedback.

Working Group Lead