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

38 Articles

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MosaicTR: tandem repeat somatic instability quantification from long-read sequencing
Kim, J.
10.64898/2026.03.16.712141 — Posted: 2026-03-18
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
SigFormer: an Attention-Based Framework for Robust Single-Sample Mutational Signature Decomposition
Zhang, Y., Niu, M., Zong, C.
10.64898/2026.01.20.700228 — Posted: 2026-01-21
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
Nanopore whole-genome sequencing reveals conserved chromosome-specific telomere architecture across tissues and populations
Engel, N. L., Brors, B., Feuerbach, L., Park, P. J.
10.64898/2025.12.10.693405 — Posted: 2025-12-12
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
Himito: a Graph-based Toolkit for Mitochondrial Genome Analysis using Long Reads
Su, H., Huang, Y., Durham, T., Kong, N., Casey,, E., Benjamin, D., Jin, S. C., Garimella, K. V.
10.1101/2025.11.03.686348 — Posted: 2025-11-05

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