Toward comprehensive maps of somatic mosaic mutations
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Updated: Nov 5, 2026

Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
Published on: October 18, 2013
1Department of Gynecology and Obstetrics, The First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, China; Centre for Mathematical Medicine, Med-X Institute, The First Affiliated Hospital of Xi'an Jiaotong University, Xi'an Jiaotong University, Xi'an, China.
Abstract:
The Somatic Mosaicism across Human Tissues Network has established complementary benchmarks for somatic mutation detection, extended mutation analysis into underexplored genomic regions, and highlighted chromatin states as potential records of cellular history. These studies show that detection performance depends on reference representation, benchmark quality, and experimental design, requiring careful calibration when integrating technologies.
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