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

22 Articles

Most recent first Page 1: Articles 1-10  | Next

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
Donor-specific assemblies enhance somatic structural variant detection in complex genomic regions
Mack, T. M., Lin, J., Ren, L., Sohn, M.-H., Minkina, A., Kwon, Y., Yoo, D., Sui, Y., Munson, K. M., Hoekzema, K., Mastrorosa, F. K., Sorensen, M., Ayllon, M., Sun, K. A., Koundiya, N., Ou, J., Noyes, M. D., Sedeno-Cortes, A., Leonardson, A., Jacques, C. N., Oliviera, C., Frazar, C. D., Zakarian, C., Jensen, D. M., Swanson, E. G., Ryke, E., Kolar, J. T., Ranchalis, J., Sutherlin, L., Vollger, M. R., Loy, K., Pham, M. M., Huang, M.-F., Au, N. Y., Nielsen, P. M., McGee, S. R., Neph, S., Bohaczuk, S., Shaffer, T., Freeman, V., Mao, Y., Cohen Stillman, B., Richardson, M., Smith, J. D., Weiss, J. M.
10.64898/2026.02.20.707061 — Posted: 2026-02-20
Cohort Profile: The Adolescent and Young Adult Tracking Engagement and Management Skills (AYA TEAMS) Longitudinal Cohort of Childhood Cancer Survivors in the United States
King-Dowling, S., Woodard, K., Faust, H., Drake, S., Gov, L., Szalda, D., Prussien, K. V., Ginsberg, J. P., Hobbie, W., Tucker, C. A., Barakat, L. P., Deatrick, J., Li, Y., Burns, K. C., Nielsen, K., Flores, V., Ramaswamy, N., Jankowski, M., O'Hagan, B., Wilkins, A., Freyer, D. R., Pai, A. L., Schwartz, L. A.
10.64898/2026.02.11.26346092 — Posted: 2026-02-14
Leveraging Human Pangenome for Improved Somatic Variant Detection
Fu, Q., Xin, Z., Miao, B., Zhang, W., Kong, N., Tang, Z., Ruttenberg, A., Albracht, D., Belter, E. A., Garza, J. E., Tomlinson, C., Mehinovic, E., Shen, J., Zhuo, X., Dong, S., Johnson, B. K., Majewski, M. F., Palmer, T., Jang, H. J., Cheng, Y., Li, Z., Lawson, H. A., Lindsay, T., Li, D., Fulton, R., Shen, H., Jin, S. C., SMaHT Network Assembly/Pangenome Working Group, , Macias-Velasco, J. F., Wang, T.
10.64898/2026.01.04.697580 — Posted: 2026-01-05
Benchmarking of duplex sequencing approaches to reveal somatic mutation landscapes
Zhang, Y., Viswanadham, V., Andreopoulos, M., Glodzik, D., Liu, R., Luquette, L., Jo, S.-Y., Narayan, A., Niu, M., Anderson, L., Brew, J., Chao, H., Cibulskis, C., Dong, G., Evani, U., Feng, W., Gronska-Peski, M., Helland, A., Hilal, N., Jabara, N., Jin, H., Li, N., Manam, M., Mallett, S., Runnels, A., Scharlee, C., Smith, C., The SMaHT Duplex Sequencing Working Group, , Shao, D., Walsh, C., Adalsteinsson, V., Germer, S., Gibbs, R., Choudhury, S., Doddapaneni, H., Evrony, G., Zong, C., Coorens, T.
10.64898/2025.12.12.692823 — Posted: 2025-12-15
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

RSS  Channel RSS