Channel:  Human Pangenome Reference Consortium (HPRC)

158 Articles

Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection
Negi, S., Stenton, S. L., Berger, S., McNulty, B., Violich, I., Gardner, J., Hillaker, T., O'Rourke, S. M., O'Leary, M. C., Carbonell, E., Austin-Tse, C., Lemire, G., Serrano, J., Mangilog, B., VanNoy, G., Kolmogorov, M., Vilain, E., O'Donnell-Luria, A., Delot, E., Miga, K. H., Monlong, J., Paten, B.
10.1101/2024.08.22.24312327 — Posted: 2024-08-22
DeepSomatic: Accurate somatic small variant discovery for multiple sequencing technologies
Park, J., Cook, D. E., Chang, P.-C., Kolesnikov, A., Brambrink, L., Mier, J. C., Gardner, J., McNulty, B., Sacco, S., Keskus, A., Bryant, A., Ahmad, T., Shetty, J., Zhao, Y., Tran, B., Narzisi, G., Helland, A., Yoo, B., Pushel, I., Lansdon, L. A., Bi, C., Walter, A., Gibson, M., Pastinen, T., Farooqi, M. S., Robine, N., Miga, K. H., Carroll, A., Kolmogorov, M., Paten, B., Shafin, K.
10.1101/2024.08.16.608331 — Posted: 2024-08-19
Single cell multiome profiling of pancreatic islets reveals physiological changes in cell type-specific regulation associated with diabetes risk
Mummey, H., Elison, W., Korgaonkar, K., Elgamel, R., Kudtarkar, P., Griffin, E., Benaglio, P., Miller, M., Jha, A., Manning Fox, J. E., Mccarthy, M., Preissl, S., Gloyn, A. L., Macdonald, P. E., Gaulton, K. J.
10.1101/2024.08.03.606460 — Posted: 2024-08-06
Comprehensive transcription factor perturbations recapitulate fibroblast transcriptional states
Southard, K. M., Ardy, R. C., Tang, A., O'Sullivan, D. D., Metzner, E., Guruvayurappan, K., Norman, T. M.
10.1101/2024.07.31.606073 — Posted: 2024-08-03
CRISPR Screening Uncovers a Long-Range Enhancer for ONECUT1 in Pancreatic Differentiation and Links a Diabetes Risk Variant
Kaplan, S. J., Wong, W., Yan, J., Pulecio, J., Cho, H., Leslie-Iyer, J., Kazakov, J., Zhao, J., Li, Q., Murphy, D., Luo, R., Dey, K. K., Apostolou, E., Lesie, C. S., Huangfu, D.
10.1101/2024.04.26.591412 — Posted: 2024-06-28
Panacus: fast and exact pangenome growth and core size estimation
Parmigiani, L., Garrison, E., Stoye, J., Marschall, T., Doerr, D.
10.1101/2024.06.11.598418 — Posted: 2024-06-12
Single cell regulatory architecture of human pancreatic islets suggests sex differences in β cell function and the pathogenesis of type 2 diabetes.
Qadir, M. M. F., Elgamal, R. M., Song, K., Kudtarkar, P., Sakamuri, S. S. V. P., Katakam, P. V., El-Dahr, S., Kolls, J. K., Gaulton, K. J., Mauvais-Jarvis, F.
10.1101/2024.04.11.589096 — Posted: 2024-06-11
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

RSS  Channel RSS