Toward comprehensive maps of somatic mosaic mutations.

The Somatic Mosaicism across Human Tissues Network established benchmarks for somatic mutation detection and showed performance depends on reference representation, benchmark quality, and experimental design.

• Why it matters: Somatic mosaic mutations are hard to detect consistently across tissues and genomic contexts, and existing benchmarks leave gaps in underexplored regions and interpretability.
• What they did: The network created complementary benchmarks, extended analysis into underexplored genomic regions, and examined chromatin states as potential records of cellular history.
• The result: Detection accuracy is linked to reference representation, benchmark quality, and experimental design, implying careful calibration is needed when integrating technologies.

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