Channel:  Somatic Mosaicism across the Human Tissues Network (SMaHT)

38 Articles

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Integrated map of somatic mosaicism across human tissues in 25 individuals
The Somatic Mosaicism across Human Tissues Network, , Sedlazeck, F. J., Coorens, T. H. H., Park, P. J., Stergachis, A. B.
10.64898/2026.09.01.748636 — Posted: 2026-09-03
Timing the onset of homologous recombination deficiency before breast cancer diagnosis
Andreopoulos, M., Niu, M., Zhang, Y., Viswanadham, V. V., Gulhan, D. C., Jin, H., Batalini, F., Wulf, G., Zong, C., Park, P. J., Glodzik, D.
10.1101/2025.10.17.683157 — Posted: 2026-08-24
Pangenome discovery and characterization of human protein-coding duplicated genes
Ren, L., Yoo, D., Vlajic, K., Dishuck, P. C., Guitart, X., Kwon, Y., Lin, J., Munson, K. M., Hoekzema, K., Stergachis, A., Vollger, M. R., Schweppe, D. K., Eichler, E. E.
10.64898/2026.08.05.743125 — Posted: 2026-08-06
Pansoma, a machine learning tool for identifying somatic variants using pangenome graphs
Shen, J., Fu, Q., Macias, J. F., Human Pangenome Reference Consortium, , Li, D., Wang, T.
10.64898/2026.05.27.726245 — Posted: 2026-07-26
Comprehensive benchmarking of somatic mutation detection by the SMaHT Network
The Somatic Mosaicism across Human Tissues Network (SMaHT), , Abyzov, A.
10.1101/2025.10.09.678885 — Posted: 2026-07-11
Short-Read Sequencing Benchmarking with Donor-Specific Assemblies
McGee, S. R., Smith, J. D., Frazar, C. D., Ryke, E., Vollger, M. R., Kwon, Y., Bennett, J. T., Eichler, E. E., Stergachis, A., Wei, C.-L.
10.64898/2026.06.24.734333 — Posted: 2026-06-28
Somatic variant detection in normal tissues from single-cell sequencing data
Luo, R., Wang, Z., Dou, J., Bhamidipati, S. V., Kalra, D., Grochowski, C. M., Doddapaneni, H. V., Gibbs, R. A., Chen, K., Chen, R.
10.64898/2026.06.10.731451 — Posted: 2026-06-14
Somatic epimutations cap genetic determinism in the human diploid chromatin epigenome
Vollger, M. R., Swanson, E. G., Neph, S. J., Mallory, B. J., Dubocanin, D., Ho, C.-H., Cheng, Y. H. H., Ranchalis, J., Munson, K. M., Sedeno-Cortes, A. E., Mudeppa, D. G., Fondrie, W. E., Bohaczuk, S. C., Dippel, M. A., Mao, Y., Parmalee, N. L., Harvey, W. T., Kwon, Y., Garcia, G. H., Hoekzema, K., Meyer, J. G., Cicek, M., Eichler, E. E., Noble, W. S., Witten, D. M., Bennett, J. T., Ray, J. P., Stergachis, A. B.
10.1101/2024.06.14.599122 — Posted: 2026-05-08
Long-read MitoScope reveals tissue-resolved somatic mitochondrial variation and landscape of nuclear-embedded mitochondrial sequences
Zakarian, C., Smith, J. D., Wong, C. H., Frazar, C. D., Ryke, E., McGee, S. R., Richardson, M., Weiss, J. M., Munson, K. M., Hoekzema, K., Mack, T., Kwon, Y., Ou, J., Neph, S. J., Sohn, M.-H., Minkina, A., Bennett, J. T., Stergachis, A. B., Eichler, E. E., Wei, C.-L.
10.64898/2026.04.13.718259 — Posted: 2026-04-15
LongcallD: joint calling and phasing of small, structural and mosaic variants from long reads
Gao, Y., Liao, W.-W., Qin, Q., Hall, I. M., Li, H.
10.64898/2026.03.20.713111 — Posted: 2026-03-22

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