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

14 Articles

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MosaicSim: A Novel Mosaic Variant Simulator Reveals Diminishing Returns of Ultra-High Coverage for Mosaic Variant Detection
Stricker, E., Jaryani, F., Izydorczyk, M., Poon, C.-L., Sanio, P., Alexander, A., Deb, S., Sedlazeck, F., Rogers, J., Atkinson, E. G.
10.64898/2025.12.03.692191 — Posted: 2025-12-07
Expanding the Genome in a Bottle Truth Set: Detection and Validation of Novel Low-frequency Variants Using High-accuracy NanoSeq
Zhang, Y., Chao, H., Niu, M., Grochowski, C. M., Kottapalli, K., Bhamidipati, S. V., muzny, d. m., Gibbs, R. A., Zong, C., Doddapaneni, H. V.
10.64898/2025.12.05.692678 — Posted: 2025-12-06
A comprehensive view of somatic mosaicism by single-cell DNA analysis
Luquette, L. J., Coorens, T. H. H., Natu, A., Suvakov, M., Caplin, A., Jun, M. S., Mo, A., Pelt, J., Anderson, L., Berselli, M., Bhamidipati, S., Blanchard, T., Brew, J., Chun, H.-J. E., Chun, H., Dehankar, M. K., Feng, W. C., Furatero, R., Grochowski, C. M., Ho, E., Jang, Y., Kottapalli, K., Leonard, M. K., Lim, N. S., Lindsay, T., Nicholson, S., Raimondi, I., Runnels, A., Scharlee, C., Shin, J., Veit, A. D., VonDran, M., Wang, Y., Yuan, D. J., Zhao, Y., Bell, T. J., Ardlie, K., Doddapaneni, H., Fulton, R., Germer, S., Landau, D., Oh, J. W., Park, P. J., Vaccarino, F. M., Walsh, C. A., Abyzov
10.1101/2025.10.31.685648 — Posted: 2025-11-03
Single cell whole genome and transcriptome sequencing links somatic mutations to cell identity and ancestry
Natu, A., Dehankar, M. K., Pattni, R., Suvakov, M., Olisov, D., Tomasini, L., Jang, Y., Huang, Y., Benito-Garragori, E., Hasenfeld, P., Korbel, J., Urban, A. E., Abyzov, A., Vaccarino, F. M.
10.1101/2025.10.28.685157 — Posted: 2025-10-29
Comprehensive benchmarking of somatic single-nucleotide variant and indel detection at ultra-low allele fractions using short- and long-read data
Ha, Y.-J. J., Maziec, D., Markowski, J., Georges, S. J., Parmalee, N. L., Berselli, M., Coorens, T. H., Dong, S., Gardiner, S., Kalra, D., Li, D., Miao, B., Musunuri, R., Xue, L., Yu, Z., Walker, K., Anderson, L., Au, N. Y., Cibulskis, C., Doddapaneni, H., Grochowski, C. M., Jensen, D. M., Lindsay, T., Loy, K., Narayan, A., Narzisi, G., Ou, J., Pham, M. M., Runnels, A. M., Stergachis, A. B., Sutherlin, L. M., Wang, T., Jin, H., Feng, W. C., Zhang, Y., Veit, A. D., Kim, C. T., Chun, H.-J. E., Ardlie, K., Fulton, R. S., Germer, S., Gibbs, R. A., Marth, G. T., Bennett, J. T., Park, P. J.
10.1101/2025.10.13.681545 — Posted: 2025-10-14
A telomere-to-telomere map of somatic mutation burden and functional impact in cancer
Sohn, M.-H., Dubocanin, D., Vollger, M. R., Kwon, Y., Minkina, A., Munson, K. M., Hart, S. F., Ranchalis, J. E., Parmalee, N. L., Sedeno-Cortes, A. E., Ou, J., Au, N. Y., Bohaczuk, S., Carroll, B., Frazar, C. D., Harvey, W. T., Hoekzema, K., Huang, M.-F., Jacques, C. N., Jensen, D. M., Kolar, J. T., Lee, R., Lin, J., Loy, K., Mack, T., Mao, Y., Pham, M. M., Ryke, E., Smith, J. D., Sutherlin, L., Swanson, E. G., Weiss, J. M., SMaHT Assembly Working Group, , Carvalho, C., Coorens, T. H., Harris, K., Wei, C.-L., Eichler, E. E., Altemose, N., Bennett, J. T., Stergachis, A. B.
10.1101/2025.10.10.681725 — Posted: 2025-10-13
A personalized multi-platform assessment of somatic mosaicism in the human frontal cortex
Zhou, W., Mumm, C., Gan, Y., Switzenberg, J. A., Wang, J., De Oliveira, P., Kathuria, K., Losh, S. J., Bessell, B., McDonald, T. L., McConnell, M. J., Boyle, A. P., Mills, R. E.
10.1101/2024.12.18.629274 — Posted: 2025-10-11
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: 2025-10-10
Multi-platform framework for mapping somatic retrotransposition in human tissues
Wang, S., Bae, M., Wang, J., Zhao, B., Nguyen, K., Mallett, S., Switzenberg, J. A., Losh, S. J., Sexton, C. E., Miao, B., Dong, S., Zeng, X., Wang, Z., McDonald, T. L., Mumm, C., Gadde, R. K., Tariq, A. M., Chen, Z., Feng, W. C., Burn, A., Park, J., Chu, C., Shen, H., Wang, T., Urban, A. E., Zhu, X., Li, H., Burns, K. H., Chun, H.-J. E., Park, P. J., SMaHT MEI Working Group, , Boyle, A. P., Mills, R. E., Zhou, W., Lee, E. A.
10.1101/2025.10.07.680917 — Posted: 2025-10-07
A Pangenomic Method for Establishing a Somatic Variant Detection Resource in HapMap Mixtures
Kong, N., Tang, Z., Ruttenberg, A., Macias-Velasco, J. F., Li, Z., Zhang, W., Miao, B., Xin, Z., Fu, Q., Park, H., Zhuo, X., Mehinovic, E., Belter, E., Tomlinson, C., Garza, J. E., Dong, S., Casey, E., Johnson, B. K., Majewski, M. F., Palmer, T., Cheng, Y., Lindsay, T., Schedl, T., Li, D., Shen, H., Fulton, R., SMaHT Network Assembly/Pangenome Working Group, , Wang, T., Jin, S. C.
10.1101/2025.09.29.679336 — Posted: 2025-10-04

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