Channel:  Human Pangenome Reference Consortium (HPRC)

bioRxiv posts many COVID19-related papers. A reminder: they have not been formally peer-reviewed and should not guide health-related behavior or be reported in the press as conclusive.

94 Articles

Structural polymorphism and diversity of human segmental duplications
Jeong, H., Dishuck, P. C., Yoo, D., Harvey, W. T., Munson, K. M., Lewis, A. P., Kordosky, J., Garcia, G. H., Human Genome Structural Variation Consortium (HGSVC), , Yilmaz, F., Hallast, P., Lee, C., Pastinen, T., Eichler, E. E.
10.1101/2024.06.04.597452 — Posted: 2024-06-06
BAllC and BAllCools: Efficient Formatting and Operating for Single-Cell DNA Methylation Data
Tian, W., Ding, W., Shen, J., Li, D., Wang, T., Ecker, J. R.
10.1101/2023.09.22.559047 — Posted: 2024-05-15
Severus: accurate detection and characterization of somatic structural variation in tumor genomes using long reads
Keskus, A., Bryant, A., Ahmad, T., Yoo, B., Aganezov, S., Goretsky, A., Donmez, A., Lansdon, L. A., Rodriguez, I., Park, J., Liu, Y., Cui, X., Gardner, J., McNulty, B., Sacco, S., Shetty, J., Zhao, Y., Tran, B., Narzisi, G., Helland, A., Cook, D. E., Carroll, A., Chang, P.-C., Kolesnikov, A., Molloy, E. K., Pushel, I., Guest, E., Pastinen, T., Shafin, K., Miga, K. H., Malikic, S., Day, C.-P., Robine, N., Sahinalp, C., Dean, M., Farooqi, M. S., Paten, B., Kolmogorov, M.
10.1101/2024.03.22.24304756 — Posted: 2024-03-26
Gapless assembly of complete human and plant chromosomes using only nanopore sequencing
Koren, S., Bao, Z., Guarracino, A., Ou, S., Goodwin, S., Jenike, K. M., Lucas, J., McNulty, B., Park, J., Rautianinen, M., Rhie, A., Roelofs, D., Schneiders, H., Vrijenhoek, I., Nijbroek, K., Ware, D., Schatz, M. C., Garrison, E., Huang, S., McCombie, W. R., Miga, K. H., Wittenberg, A. H. J., Phillippy, A. M.
10.1101/2024.03.15.585294 — Posted: 2024-03-19
Full resolution HLA and KIR genes annotation for human genome assemblies
Zhou, Y., Song, L., Li, H.
10.1101/2024.01.20.576452 — Posted: 2024-01-23
The complete human diploid reference genome of RPE-1 identifies the phased epigenetic landscapes from multi-omics data
Volpe, E., Corda, L., Di Tommaso, E., Pelliccia, F., Ottalevi, R., Licastro, D., Guarracino, A., Capulli, M., Formenti, G., Tassone, E., Giunta, S.
10.1101/2023.11.01.565049 — Posted: 2023-12-30
Personalized Pangenome References
Siren, J., Eskandar, P., Ungaro, M. T., Hickey, G., Eizenga, J. M., Novak, A. M., Chang, X., Chang, P.-C., Kolmogorov, M., Carroll, A., Monlong, J., Paten, B.
10.1101/2023.12.13.571553 — Posted: 2023-12-15
Neotelomeres and Telomere-Spanning Chromosomal Arm Fusions in Cancer Genomes Revealed by Long-Read Sequencing
Tan, K.-T., Slevin, M. K., Leibowitz, M. L., Garrity-Janger, M., Li, H., Meyerson, M.
10.1101/2023.11.30.569101 — Posted: 2023-12-01
ntsm: an alignment-free, ultra low coverage, sequencing technology agnostic, intraspecies sample comparison tool for sample swap detection
Chu, J., Rong, J., Feng, X., Li, H.
10.1101/2023.11.01.565041 — Posted: 2023-11-03
KmerSV: a visualization and annotation tool for structural variants using Human Pangenome derived k-mers
Meng, Q., Ji, H. P., Lee, H.
10.1101/2023.10.11.561941 — Posted: 2023-10-15

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