과제정보
This study was supported by the Bio & Medical Technology Development Program of the National Research Foundation (NRF), funded by the Korean government (MSIT) (No. 2019M3A9B6066967).
참고문헌
- Amodio, M., van Dijk, D., Srinivasan, K., Chen, W.S., Mohsen, H., Moon, K.R., Campbell, A., Zhao, Y., Wang, X., Venkataswamy, M., et al. (2019). Exploring single-cell data with deep multitasking neural networks. Nat. Methods 16, 1139-1145. https://doi.org/10.1038/s41592-019-0576-7
- Aran, D., Looney, A.P., Liu, L., Wu, E., Fong, V., Hsu, A., Chak, S., Naikawadi, R.P., Wolters, P.J., Abate, A.R., et al. (2019). Reference-based analysis of lung single-cell sequencing reveals a transitional profibrotic macrophage. Nat. Immunol. 20, 163-172. https://doi.org/10.1038/s41590-018-0276-y
- Argelaguet, R., Cuomo, A.S.E., Stegle, O., and Marioni, J.C. (2021). Computational principles and challenges in single-cell data integration. Nat. Biotechnol. 39, 1202-1215. https://doi.org/10.1038/s41587-021-00895-7
- Barkas, N., Petukhov, V., Nikolaeva, D., Lozinsky, Y., Demharter, S., Khodosevich, K., and Kharchenko, P.V. (2019). Joint analysis of heterogeneous single-cell RNA-seq dataset collections. Nat. Methods 16, 695-698. https://doi.org/10.1038/s41592-019-0466-z
- Barrett, T., Wilhite, S.E., Ledoux, P., Evangelista, C., Kim, I.F., Tomashevsky, M., Marshall, K.A., Phillippy, K.H., Sherman, P.M., Holko, M., et al. (2013). NCBI GEO: archive for functional genomics data sets--update. Nucleic Acids Res. 41(Database issue), D991-D995.
- Blondel, V.D., Guillaume, J.L., Lambiotte, R., and Lefebvre, E. (2008). Fast unfolding of communities in large networks. J. Stat. Mech. 2008, P10008.
- Bolstad, B.M., Irizarry, R.A., Astrand, M., and Speed, T.P. (2003). A comparison of normalization methods for high density oligonucleotide array data based on variance and bias. Bioinformatics 19, 185-193. https://doi.org/10.1093/bioinformatics/19.2.185
- Brennecke, P., Anders, S., Kim, J.K., Kolodziejczyk, A.A., Zhang, X., Proserpio, V., Baying, B., Benes, V., Teichmann, S.A., Marioni, J.C., et al. (2013). Accounting for technical noise in single-cell RNA-seq experiments. Nat. Methods 10, 1093-1095. https://doi.org/10.1038/nmeth.2645
- Bryois, J., Calini, D., Macnair, W., Foo, L., Urich, E., Ortmann, W., Iglesias, V.A., Selvaraj, S., Nutma, E., Marzin, M., et al. (2022). Cell-type-specific cis-eQTLs in eight human brain cell types identify novel risk genes for psychiatric and neurological disorders. Nat. Neurosci. 25, 1104-1112. https://doi.org/10.1038/s41593-022-01128-z
- Buettner, F., Natarajan, K.N., Casale, F.P., Proserpio, V., Scialdone, A., Theis, F.J., Teichmann, S.A., Marioni, J.C., and Stegle, O. (2015). Computational analysis of cell-to-cell heterogeneity in single-cell RNA-sequencing data reveals hidden subpopulations of cells. Nat. Biotechnol. 33, 155-160. https://doi.org/10.1038/nbt.3102
- Butler, A., Hoffman, P., Smibert, P., Papalexi, E., and Satija, R. (2018). Integrating single-cell transcriptomic data across different conditions, technologies, and species. Nat. Biotechnol. 36, 411-420. https://doi.org/10.1038/nbt.4096
- Bzdok, D., Altman, N., and Krzywinski, M. (2018). Statistics versus machine learning. Nat. Methods 15, 233-234. https://doi.org/10.1038/nmeth.4642
- Chen, H.I., Jin, Y., Huang, Y., and Chen, Y. (2016). Detection of high variability in gene expression from single-cell RNA-seq profiling. BMC Genomics 17 Suppl 7, 508.
- Cheng, S., Li, Z., Gao, R., Xing, B., Gao, Y., Yang, Y., Qin, S., Zhang, L., Ouyang, H., Du, P., et al. (2021). A pan-cancer single-cell transcriptional atlas of tumor infiltrating myeloid cells. Cell 184, 792-809.e23. https://doi.org/10.1016/j.cell.2021.01.010
- Csardi, G. and Nepusz, T. (2006). The igraph software package for complex network research. InterJournal, Complex Systems 1695, 1-9.
- Giorgino, T. (2009). Computing and visualizing dynamic time warping alignments in R: the dtw Package. J. Stat. Softw. 31, 1-24. https://doi.org/10.18637/jss.v031.i07
- Giustacchini, A., Thongjuea, S., Barkas, N., Woll, P.S., Povinelli, B.J., Booth, C.A.G., Sopp, P., Norfo, R., Rodriguez-Meira, A., Ashley, N., et al. (2017). Single-cell transcriptomics uncovers distinct molecular signatures of stem cells in chronic myeloid leukemia. Nat. Med. 23, 692-702. https://doi.org/10.1038/nm.4336
- Greene, W.H. (1994). Accounting for Excess Zeros and Sample Selection in Poisson and Negative Binomial Regression Models (New York: New York University).
- Haghverdi, L., Lun, A.T.L., Morgan, M.D., and Marioni, J.C. (2018). Batch effects in single-cell RNA-sequencing data are corrected by matching mutual nearest neighbors. Nat. Biotechnol. 36, 421-427. https://doi.org/10.1038/nbt.4091
- Hie, B., Bryson, B., and Berger, B. (2019). Efficient integration of heterogeneous single-cell transcriptomes using Scanorama. Nat. Biotechnol. 37, 685-691. https://doi.org/10.1038/s41587-019-0113-3
- Johnson, W.E., Li, C., and Rabinovic, A. (2007). Adjusting batch effects in microarray expression data using empirical Bayes methods. Biostatistics 8, 118-127. https://doi.org/10.1093/biostatistics/kxj037
- Kadoki, M., Patil, A., Thaiss, C.C., Brooks, D.J., Pandey, S., Deep, D., Alvarez, D., von Andrian, U.H., Wagers, A.J., Nakai, K., et al. (2017). Organism-level analysis of vaccination reveals networks of protection across tissues. Cell 171, 398-413.e21. https://doi.org/10.1016/j.cell.2017.08.024
- Kim, Y., Kim, T.K., Kim, Y., Yoo, J., You, S., Lee, I., Carlson, G., Hood, L., Choi, S., and Hwang, D. (2011). Principal network analysis: identification of subnetworks representing major dynamics using gene expression data. Bioinformatics 27, 391-398. https://doi.org/10.1093/bioinformatics/btq670
- Korsunsky, I., Millard, N., Fan, J., Slowikowski, K., Zhang, F., Wei, K., Baglaenko, Y., Brenner, M., Loh, P.R., and Raychaudhuri, S. (2019). Fast, sensitive and accurate integration of single-cell data with Harmony. Nat. Methods 16, 1289-1296. https://doi.org/10.1038/s41592-019-0619-0
- Kotliar, D., Veres, A., Nagy, M.A., Tabrizi, S., Hodis, E., Melton, D.A., and Sabeti, P.C. (2019). Identifying gene expression programs of cell-type identity and cellular activity with single-cell RNA-Seq. Elife 8, e43803.
- Kriebel, A.R. and Welch, J.D. (2022). UINMF performs mosaic integration of single-cell multi-omic datasets using nonnegative matrix factorization. Nat. Commun. 13, 780.
- Li, X., Wang, K., Lyu, Y., Pan, H., Zhang, J., Stambolian, D., Susztak, K., Reilly, M.P., Hu, G., and Li, M. (2020). Deep learning enables accurate clustering with batch effect removal in single-cell RNA-seq analysis. Nat. Commun. 11, 2338.
- Lin, Y., Ghazanfar, S., Wang, K.Y.X., Gagnon-Bartsch, J.A., Lo, K.K., Su, X., Han, Z.G., Ormerod, J.T., Speed, T.P., Yang, P., et al. (2019). scMerge leverages factor analysis, stable expression, and pseudoreplication to merge multiple single-cell RNA-seq datasets. Proc. Natl. Acad. Sci. U. S. A. 116, 9775-9784. https://doi.org/10.1073/pnas.1820006116
- Lopez, R., Regier, J., Cole, M.B., Jordan, M.I., and Yosef, N. (2018). Deep generative modeling for single-cell transcriptomics. Nat. Methods 15, 1053-1058. https://doi.org/10.1038/s41592-018-0229-2
- Lotfollahi, M., Naghipourfar, M., Theis, F.J., and Wolf, F.A. (2020). Conditional out-of-distribution generation for unpaired data using transfer VAE. Bioinformatics 36(Suppl_2), i610-i617. https://doi.org/10.1093/bioinformatics/btaa800
- Lotfollahi, M., Wolf, F.A., and Theis, F.J. (2019). scGen predicts single-cell perturbation responses. Nat. Methods 16, 715-721. https://doi.org/10.1038/s41592-019-0494-8
- Luecken, M.D., Buttner, M., Chaichoompu, K., Danese, A., Interlandi, M., Mueller, M.F., Strobl, D.C., Zappia, L., Dugas, M., Colome-Tatche, M., et al. (2022). Benchmarking atlas-level data integration in single-cell genomics. Nat. Methods 19, 41-50. https://doi.org/10.1038/s41592-021-01336-8
- Lun, A.T., McCarthy, D.J., and Marioni, J.C. (2016). A step-by-step workflow for low-level analysis of single-cell RNA-seq data with Bioconductor. F1000Res. 5, 2122.
- McKellar, D.W., Walter, L.D., Song, L.T., Mantri, M., Wang, M.F.Z., De Vlaminck, I., and Cosgrove, B.D. (2021). Large-scale integration of singlecell transcriptomic data captures transitional progenitor states in mouse skeletal muscle regeneration. Commun. Biol. 4, 1280.
- Molania, R., Gagnon-Bartsch, J.A., Dobrovic, A., and Speed, T.P. (2019). A new normalization for Nanostring nCounter gene expression data. Nucleic Acids Res. 47, 6073-6083. https://doi.org/10.1093/nar/gkz433
- Morabito, S., Miyoshi, E., Michael, N., Shahin, S., Martini, A.C., Head, E., Silva, J., Leavy, K., Perez-Rosendahl, M., and Swarup, V. (2021). Single-nucleus chromatin accessibility and transcriptomic characterization of Alzheimer's disease. Nat. Genet. 53, 1143-1155. https://doi.org/10.1038/s41588-021-00894-z
- Polanski, K., Young, M.D., Miao, Z., Meyer, K.B., Teichmann, S.A., and Park, J.E. (2020). BBKNN: fast batch alignment of single cell transcriptomes. Bioinformatics 36, 964-965. https://doi.org/10.1093/bioinformatics/btz625
- Regev, A., Teichmann, S.A., Lander, E.S., Amit, I., Benoist, C., Birney, E., Bodenmiller, B., Campbell, P., Carninci, P., Clatworthy, M., et al. (2017). The human cell atlas. Elife 6, e27041.
- Reichart, D., Lindberg, E.L., Maatz, H., Miranda, A.M.A., Viveiros, A., Shvetsov, N., Gartner, A., Nadelmann, E.R., Lee, M., Kanemaru, K., et al. (2022). Pathogenic variants damage cell composition and single cell transcription in cardiomyopathies. Science 377, eabo1984.
- Risso, D., Perraudeau, F., Gribkova, S., Dudoit, S., and Vert, J.P. (2018). A general and flexible method for signal extraction from single-cell RNA-seq data. Nat. Commun. 9, 284.
- Ritchie, M.E., Phipson, B., Wu, D., Hu, Y., Law, C.W., Shi, W., and Smyth, G.K. (2015). limma powers differential expression analyses for RNA-sequencing and microarray studies. Nucleic Acids Res. 43, e47.
- Smillie, C.S., Biton, M., Ordovas-Montanes, J., Sullivan, K.M., Burgin, G., Graham, D.B., Herbst, R.H., Rogel, N., Slyper, M., Waldman, J., et al. (2019). Intra- and inter-cellular rewiring of the human colon during ulcerative colitis. Cell 178, 714-730.e22. https://doi.org/10.1016/j.cell.2019.06.029
- Stuart, T., Butler, A., Hoffman, P., Hafemeister, C., Papalexi, E., Mauck, W.M., 3rd, Hao, Y., Stoeckius, M., Smibert, P., and Satija, R. (2019). Comprehensive integration of single-cell data. Cell 177, 1888-1902.e21. https://doi.org/10.1016/j.cell.2019.05.031
- Tran, H.T.N., Ang, K.S., Chevrier, M., Zhang, X., Lee, N.Y.S., Goh, M., and Chen, J. (2020). A benchmark of batch-effect correction methods for single-cell RNA sequencing data. Genome Biol. 21, 12.
- Trapnell, C., Cacchiarelli, D., Grimsby, J., Pokharel, P., Li, S., Morse, M., Lennon, N.J., Livak, K.J., Mikkelsen, T.S., and Rinn, J.L. (2014). The dynamics and regulators of cell fate decisions are revealed by pseudotemporal ordering of single cells. Nat. Biotechnol. 32, 381-386. https://doi.org/10.1038/nbt.2859
- Uchimura, K., Wu, H., Yoshimura, Y., and Humphreys, B.D. (2020). Human pluripotent stem cell-derived kidney organoids with improved collecting duct maturation and injury modeling. Cell Rep. 33, 108514.
- Vallejos, C.A., Marioni, J.C., and Richardson, S. (2015). BASiCS: Bayesian analysis of single-cell sequencing data. PLoS Comput. Biol. 11, e1004333.
- Villa, C.E., Cheroni, C., Dotter, C.P., Lopez-Tobon, A., Oliveira, B., Sacco, R., Yahya, A.C., Morandell, J., Gabriele, M., Tavakoli, M.R., et al. (2022). CHD8 haploinsufficiency links autism to transient alterations in excitatory and inhibitory trajectories. Cell Rep. 39, 110615.
- Welch, J.D., Kozareva, V., Ferreira, A., Vanderburg, C., Martin, C., and Macosko, E.Z. (2019). Single-cell multi-omic integration compares and contrasts features of brain cell identity. Cell 177, 1873-1887.e17. https://doi.org/10.1016/j.cell.2019.05.006
- Xu, C., Lopez, R., Mehlman, E., Regier, J., Jordan, M.I., and Yosef, N. (2021). Probabilistic harmonization and annotation of single-cell transcriptomics data with deep generative models. Mol. Syst. Biol. 17, e9620.
- Yang, Z. and Michailidis, G. (2016). A non-negative matrix factorization method for detecting modules in heterogeneous omics multi-modal data. Bioinformatics 32, 1-8. https://doi.org/10.1093/bioinformatics/btv544
- Yoon, B.K., Oh, T.G., Bu, S., Seo, K.J., Kwon, S.H., Lee, J.Y., Kim, Y., Kim, J.W., Ahn, H.S., and Fang, S. (2022). The peripheral immune landscape in a patient with myocarditis after the administration of BNT162b2 mRNA vaccine. Mol. Cells 45, 738-748. https://doi.org/10.14348/molcells.2022.0031
- Young, A.L., Marinescu, R.V., Oxtoby, N.P., Bocchetta, M., Yong, K., Firth, N.C., Cash, D.M., Thomas, D.L., Dick, K.M., Cardoso, J., et al. (2018). Uncovering the heterogeneity and temporal complexity of neurodegenerative diseases with Subtype and Stage Inference. Nat. Commun. 9, 4273.