EagleC: A deep-learning framework for detecting a full range of structural variations from bulk and single-cell contact maps
Open accessAbstract
The Hi-C technique has been shown to be a promising method to detect structural variations (SVs) in human genomes. However, algorithms that can use Hi-C data for a full-range SV detection have been severely lacking. Current methods can only identify interchromosomal translocations and long-range intrachromosomal SVs (>1 Mb) at less-than-optimal resolution. Therefore, we develop EagleC, a framework that combines deep-learning and ensemble-learning strategies to predict a full range of SVs at high resolution. We show that EagleC can uniquely capture a set of fusion genes that are missed by whole-genome sequencing or nanopore. Furthermore, EagleC also effectively captures SVs in other chromatin interaction platforms, such as HiChIP, Chromatin interaction analysis with paired-end tag sequencing (ChIA-PET), and capture Hi-C. We apply EagleC in more than 100 cancer cell lines and primary tumors and identify a valuable set of high-quality SVs. Last, we demonstrate that EagleC can be applied to single-cell Hi-C and used to study the SV heterogeneity in primary tumors.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Persistent DSBs in neurons could indirectly impact the 3D genome organization through genome structural variations.
“Persistent DSBs in neurons could also indirectly impact the 3D genome organization through genome structural variations”
From Neuronal DNA double-strand breaks lead to genome structural variations and 3D genome disruption in neurodegeneration (2023) · cites this paper as [55]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
Minimap2: Pairwise alignment for nucleotide sequences
Li, H. (2018) · Bioinformatics · doi:10.1093/bioinformatics/bty191 · Cited by 14,807 · see citing works
Aligning sequence reads, clone sequences and assembly contigs with BWA-MEMPreprint
Li, H. (2013) · arXiv (Cornell University) · doi:10.48550/arxiv.1303.3997 · Cited by 9,540 · see citing works
A 3D Map of the Human Genome at Kilobase Resolution Reveals Principles of Chromatin Looping
Rao, S. S. P., Huntley, M. H., Durand, N. C., Stamenova, E. K., Bochkov, I. D., Robinson, J. T., Sanborn, A. L., Machol, I., Omer, A. D., Lander, E. S., et al. (2014) · Cell · doi:10.1016/j.cell.2014.11.021 · Cited by 9,212 · see citing works
Comprehensive Mapping of Long-Range Interactions Reveals Folding Principles of the Human Genome
Lieberman-Aiden, E., van Berkum, N. L., Williams, L., Imakaev, M., Ragoczy, T., Telling, A., Amit, I., Lajoie, B. R., Sabo, P. J., Dorschner, M. O., et al. (2009) · Science · doi:10.1126/science.1181369 · Cited by 8,898 · see citing works
Topological domains in mammalian genomes identified by analysis of chromatin interactions
Dixon, J. R., Selvaraj, S., Yue, F., Kim, A., Li, Y., Shen, Y., Hu, M., Liu, J. S., & Ren, B. (2012) · Nature · doi:10.1038/nature11082 · Cited by 6,829 · see citing works
Self-citationThe landscape of somatic copy-number alteration across human cancers
Beroukhim, R., Mermel, C. H., Porter, D., Wei, G., Raychaudhuri, S., Donovan, J., Barretina, J., Boehm, J. S., Dobson, J., Urashima, M., et al. (2010) · Nature · doi:10.1038/nature08822 · Cited by 4,017 · see citing works
Juicer Provides a One-Click System for Analyzing Loop-Resolution Hi-C Experiments
Durand, N. C., Shamim, M. S., Machol, I., Rao, S. S. P., Huntley, M. H., Lander, E. S., & Aiden, E. L. (2016) · Cell Systems · doi:10.1016/j.cels.2016.07.002 · Cited by 3,724 · see citing works
Next-generation characterization of the Cancer Cell Line Encyclopedia
Ghandi, M., Huang, F. W., Jané-Valbuena, J., Kryukov, G. V., Lo, C. C., McDonald, E. R., Barretina, J., Gelfand, E. T., Bielski, C. M., Li, H., et al. (2019) · Nature · doi:10.1038/s41586-019-1186-3 · Cited by 3,394 · see citing works
DELLY: structural variant discovery by integrated paired-end and split-read analysis
Rausch, T., Zichner, T., Schlattl, A., Stütz, A. M., Beneš, V., & Korbel, J. O. (2012) · Bioinformatics · doi:10.1093/bioinformatics/bts378 · Cited by 2,384 · see citing works
Landscape of somatic mutations in 560 breast cancer whole-genome sequences
Nik-Zainal, S., Davies, H., Staaf, J., Ramakrishna, M., Glodzik, D., Zou, X., Martincorena, I., Alexandrov, L. B., Martin, S., Wedge, D. C., et al. (2016) · Nature · doi:10.1038/nature17676 · Cited by 2,218 · see citing works
Pan-cancer patterns of somatic copy number alteration
Zack, T. I., Schumacher, S. E., Carter, S. L., Cherniack, A. D., Saksena, G., Tabak, B., Lawrence, M. S., Zhang, C., Wala, J. A., Mermel, C. H., et al. (2013) · Nature Genetics · doi:10.1038/ng.2760 · Cited by 1,843 · see citing works
Cooler: scalable storage for Hi-C data and other genomically labeled arrays
Abdennur, N., & Mirny, L. A. (2020) · Bioinformatics · doi:10.1093/bioinformatics/btz540 · Cited by 1,759 · see citing works
Nanopore sequencing technology, bioinformatics and applications
Wang, Y., Zhao, Y., Bollas, A. E., Wang, Y., & Au, K. F. (2021) · Nature Biotechnology · doi:10.1038/s41587-021-01108-x · Cited by 1,756 · see citing works
An oestrogen-receptor-α-bound human chromatin interactome
Fullwood, M. J., Liu, M. H., Pan, Y. F., Liu, J., Han, X., Mohamed, Y. B., Orlov, Y. L., Velkov, S., Ho, A., Poh, H. M., et al. (2009) · Nature · doi:10.1038/nature08497 · Cited by 1,728 · see citing works
Accurate detection of complex structural variations using single-molecule sequencing
Sedlazeck, F. J., Rescheneder, P., Smolka, M., Fang, H., Nattestad, M., von Haeseler, A., & Schatz, M. C. (2018) · Nature Methods · doi:10.1038/s41592-018-0001-7 · Cited by 1,601 · see citing works
LUMPY: a probabilistic framework for structural variant discovery
Layer, R. M., Chiang, C., Quinlan, A. R., & Hall, I. M. (2014) · Genome biology · doi:10.1186/gb-2014-15-6-r84 · Cited by 1,510 · see citing works
The biology and role of CD44 in cancer progression: therapeutic implications
Chen, C., Zhao, S., Karnad, A. B., & Freeman, J. W. (2018) · Journal of Hematology & Oncology · doi:10.1186/s13045-018-0605-5 · Cited by 1,404 · see citing works
The impact of translocations and gene fusions on cancer causation
Mitelman, F., Johansson, B., & Mertens, F. (2007) · Nature Reviews Cancer · doi:10.1038/nrc2091 · Cited by 1,400 · see citing works
Long-read human genome sequencing and its applications
Logsdon, G. A., Vollger, M. R., & Eichler, E. E. (2020) · Nature Reviews Genetics · doi:10.1038/s41576-020-0236-x · Cited by 1,222 · see citing works
HiChIP: efficient and sensitive analysis of protein-directed genome architecture
Mumbach, M. R., Rubin, A. J., Flynn, R. A., Dai, C., Khavari, P. A., Greenleaf, W. J., & Chang, H. Y. (2016) · Nature Methods · doi:10.1038/nmeth.3999 · Cited by 1,139 · see citing works
Boeva, V., Popova, T. G., Kevin Bleakley, A., Chiche, P., Cappo, J., Schleiermacher, G., Janoueix‐Lerosey, I., Delattre, O., & Barillot, E. (2011) · Bioinformatics · doi:10.1093/bioinformatics/btr670 · Cited by 1,012 · see citing works
Mapping long-range promoter contacts in human cells with high-resolution capture Hi-C
Mifsud, B., Tavares-Cadete, F., Young, A. N., Sugar, R., Schoenfelder, S., Ferreira, L., Wingett, S. W., Andrews, S., Grey, W., Ewels, P. A., et al. (2015) · Nature Genetics · doi:10.1038/ng.3286 · Cited by 990 · see citing works
Delineating copy number and clonal substructure in human tumors from single-cell transcriptomes
Gao, R., Bai, S., Henderson, Y. C., Lin, Y., Schalck, A. P., Yan, Y., Kumar, T., Hu, M. S., Sei, E., Davis, A., et al. (2021) · Nature Biotechnology · doi:10.1038/s41587-020-00795-2 · Cited by 931 · see citing works
The UCSC genome browser and associated tools
Kuhn, R. M., Haussler, D., & Kent, W. J. (2013) · Briefings in Bioinformatics · doi:10.1093/bib/bbs038 · Cited by 883 · see citing works
Campbell, P. J., Stephens, P. J., Pleasance, E., O’Meara, S., Li, H., Santarius, T., Stebbings, L. A., Leroy, C., Edkins, S., Hardy, C. W., et al. (2008) · Nature Genetics · doi:10.1038/ng.128 · Cited by 812 · see citing works
Targeting oncogenic Myc as a strategy for cancer treatment
Chen, H., Liu, H., & Qing, G. (2018) · Signal Transduction and Targeted Therapy · doi:10.1038/s41392-018-0008-7 · Cited by 806 · see citing works
Formation of new chromatin domains determines pathogenicity of genomic duplications
Franke, M., Ibrahim, D. M., Andrey, G., Schwarzer, W., Heinrich, V., Schöpflin, R., Kraft, K., Kempfer, R., Jerković, I., Chan, W.-L., et al. (2016) · Nature · doi:10.1038/nature19800 · Cited by 673 · see citing works
Massively multiplex single-cell Hi-C
Ramani, V., Deng, X., Qiu, R., Gunderson, K. L., Steemers, F. J., Distèche, C. M., Noble, W. S., Duan, Z., & Shendure, J. (2017) · Nature Methods · doi:10.1038/nmeth.4155 · Cited by 532 · see citing works
Accurate and efficient detection of gene fusions from RNA sequencing data
Uhrig, S., Ellermann, J., Walther, T., Burkhardt, P., Fröhlich, M., Hutter, B., Toprak, U. H., Neumann, O., Stenzinger, A., Scholl, C., et al. (2021) · Genome Research · doi:10.1101/gr.257246.119 · Cited by 526 · see citing works
Three-dimensional genome structures of single diploid human cells
Tan, L., Xing, D., Chang, C.-H., Li, H., & Xie, X. S. (2018) · Science · doi:10.1126/science.aat5641 · Cited by 479 · see citing works
Integrative detection and analysis of structural variation in cancer genomes
Dixon, J. R., Xu, J., Dileep, V., Zhan, Y., Song, F., Le, V. T., Yardımcı, G. G., Chakraborty, A., Bann, D. V., Wang, Y., et al. (2018) · Nature Genetics · doi:10.1038/s41588-018-0195-8 · Cited by 452 · see citing works
Weischenfeldt, J., Dubash, T., Drainas, A. P., Mardin, B. R., Chen, Y., Stütz, A. M., Waszak, S. M., Bosco, G., Halvorsen, A. R., Raeder, B., et al. (2017) · Nature Genetics · doi:10.1038/ng.3722 · Cited by 404 · see citing works
Genome Organization Drives Chromosome Fragility
Canela, A., Maman, Y., Jung, S., Wong, N., Callen, E., Day, A., Kieffer-Kwon, K.-R., Pekowska, A., Zhang, H., Rao, S. S. P., et al. (2017) · Cell · doi:10.1016/j.cell.2017.06.034 · Cited by 383 · see citing works
SVIM: structural variant identification using mapped long reads
Heller, D., & Vingron, M. (2019) · Bioinformatics · doi:10.1093/bioinformatics/btz041 · Cited by 380 · see citing works
Mapping of long-range chromatin interactions by proximity ligation-assisted ChIP-seq
Fang, R., Yu, M., Li, G., Chee, S., Liu, T., Schmitt, A. D., & Ren, B. (2016) · Cell Research · doi:10.1038/cr.2016.137 · Cited by 344 · see citing works
Simultaneous profiling of 3D genome structure and DNA methylation in single human cells
Lee, D.-S., Luo, C., Zhou, J., Chandran, S., Rivkin, A., Bartlett, A., Nery, J. R., Fitzpatrick, C., O’Connor, C., Dixon, J. R., et al. (2019) · Nature Methods · doi:10.1038/s41592-019-0547-z · Cited by 340 · see citing works
Despang, A., Schöpflin, R., Franke, M., Ali, S., Jerković, I., Paliou, C., Chan, W.-L., Timmermann, B., Wittler, L., Vingron, M., et al. (2019) · Nature Genetics · doi:10.1038/s41588-019-0466-z · Cited by 306 · see citing works
Disruption of chromatin folding domains by somatic genomic rearrangements in human cancer
Akdemir, K. C., Le, V. T., Chandran, S., Li, Y., Verhaak, R. G., Beroukhim, R., Campbell, P. J., Chin, L., Dixon, J. R., Futreal, P. A., et al. (2020) · Nature Genetics · doi:10.1038/s41588-019-0564-y · Cited by 283 · see citing works
Megabase-scale deletion using CRISPR/Cas9 to generate a fully haploid human cell linePreprint
Essletzbichler, P., Konopka, T., Santoro, F., Chen, D., Gapp, B. V., Královics, R., Brummelkamp, T. R., Nijman, S. M. B., & Bürckstümmer, T. (2014) · Genome Research · doi:10.1101/gr.177220.114 · Cited by 266 · see citing works
Cancer genome sequencing: a review
Mardis, E. R., & Wilson, R. K. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp396 · Cited by 204 · see citing works
Dynamic 3D chromatin architecture contributes to enhancer specificity and limb morphogenesis
Kragesteen, B. K., Spielmann, M., Paliou, C., Heinrich, V., Schöpflin, R., Esposito, A., Annunziatella, C., Bianco, S., Chiariello, A. M., Jerković, I., et al. (2018) · Nature Genetics · doi:10.1038/s41588-018-0221-x · Cited by 183 · see citing works
Harewood, L., Kishore, K., Eldridge, M. D., Wingett, S., Pearson, D., Schoenfelder, S., Collins, V. P., & Fraser, P. (2017) · Genome Biology · doi:10.1186/s13059-017-1253-8 · Cited by 178 · see citing works
Mechanisms of Genomic Instability in Breast Cancer
Duijf, P. H. G., Nanayakkara, D. M., Nones, K., Srihari, S., Kalimutho, M., & Khanna, K. K. (2019) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2019.04.004 · Cited by 168 · see citing works
Wang, X., Xu, J., Zhang, B., Hou, Y., Song, F., Lyu, H., & Yue, F. (2021) · Nature Methods · doi:10.1038/s41592-021-01164-w · Cited by 152 · see citing works
A map of cis-regulatory elements and 3D genome structures in zebrafish
Yang, H., Luan, Y., Liu, T., Lee, H. J., Li, F., Wang, Y., Wang, X., Zhang, B., Jin, Q., Ang, K. C., et al. (2020) · Nature · doi:10.1038/s41586-020-2962-9 · Cited by 144 · see citing works
Methods for copy number aberration detection from single-cell DNA-sequencing data
Mallory, X., Edrisi, M., Navin, N. E., & Nakhleh, L. K. (2020) · Genome biology · doi:10.1186/s13059-020-02119-8 · Cited by 143 · see citing works
Kraft, K., Magg, A., Heinrich, V., Riemenschneider, C., Schöpflin, R., Markowski, J., Ibrahim, D. M., Acuña‐Hidalgo, R., Despang, A., Andrey, G., et al. (2019) · Nature Cell Biology · doi:10.1038/s41556-019-0273-x · Cited by 137 · see citing works
Picky comprehensively detects high-resolution structural variants in nanopore long reads
Gong, L., Wong, C., Cheng, W., Tjong, H., Menghi, F., Ngan, C. Y., Liu, E. T., & Wei, C. (2018) · Nature Methods · doi:10.1038/s41592-018-0002-6 · Cited by 113 · see citing works
HiNT: a computational method for detecting copy number variations and translocations from Hi-C data
Wang, S., Lee, S., Chu, C., Jain, D., Kerpedjiev, P., Nelson, G. M., Walsh, J. M., Alver, B. H., & Park, P. J. (2020) · Genome Biology · doi:10.1186/s13059-020-01986-5 · Cited by 99 · see citing works
Identification of copy number variations and translocations in cancer cells from Hi-C data
Chakraborty, A., & Ay, F. (2018) · Bioinformatics · doi:10.1093/bioinformatics/btx664 · Cited by 94 · see citing works
Wang, X., Cui, W., & Peng, C. (2017) · Nucleic Acids Research · doi:10.1093/nar/gkx735 · Cited by 93 · see citing works
Poirion, O., Zhu, X., Ching, T. H., & Garmire, L. X. (2018) · Nature Communications · doi:10.1038/s41467-018-07170-5 · Cited by 77 · see citing works
Chromosomal rearrangements in cancer
Hasty, P., & Montagna, C. (2014) · Molecular & Cellular Oncology · doi:10.4161/mco.29904 · Cited by 75 · see citing works
Cancer Cytogenetics: Methodology Revisited
Wan, T. S. K. (2014) · Annals of Laboratory Medicine · doi:10.3343/alm.2014.34.6.413 · Cited by 61 · see citing works
Evaluating nanopore sequencing data processing pipelines for structural variation identification
Zhou, A., Lin, T., & Xing, J. (2019) · Genome biology · doi:10.1186/s13059-019-1858-1 · Cited by 60 · see citing works
Association of p53 and MSH2 with recombinative repair complexes during S phase
Zink, D., Mayr, C., Janz, C., & Wiesmüller, L. (2002) · Oncogene · doi:10.1038/sj.onc.1205614 · Cited by 56 · see citing works
TheCDKN2ATumor-Suppressor Locus — A Tale of Two Proteins
Clurman, B. E., & Groudine, M. T. (1998) · New England Journal of Medicine · doi:10.1056/nejm199803263381312 · Cited by 36 · see citing works
Pleiotropic tumor suppressor functions of WWOX antagonize metastasis
Khawaled, S., Nigita, G., Distefano, R., Oster, S. K., Suh, S., Smith, Y., Khalaileh, A., Peng, Y., Croce, C. M., Geiger, T., et al. (2020) · Signal Transduction and Targeted Therapy · doi:10.1038/s41392-020-0136-8 · Cited by 32 · see citing works
CHFR, a potential tumor suppressor, downregulates interleukin-8 through the inhibition of NF-κB
Kashima, L., Toyota, M., Mita, H., Suzuki, H., Idogawa, M., Ogi, K., Sasaki, Y., & Tokino, T. (2009) · Oncogene · doi:10.1038/onc.2009.123 · Cited by 31 · see citing works
Detection of DNA fusion junctions for BCR-ABL translocations by Anchored ChromPET
Shibata, Y., Malhotra, A., & Dutta, A. (2010) · Genome Medicine · doi:10.1186/gm191 · Cited by 27 · see citing works
Hi-C as a molecular rangefinder to examine genomic rearrangements
Kim, K., Kim, M., Kim, Y., Lee, D.-S., & Jung, I. (2021) · Seminars in Cell and Developmental Biology · doi:10.1016/j.semcdb.2021.04.024 · Cited by 15 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
Glioblastoma evolution and heterogeneity from a 3D whole-tumor perspective
Mathur, R., Wang, Q., Schupp, P. G., Nikolić, A., Hilz, S., Hong, C., Grishanina, N. R., Kwok, D. W., Stevers, N. O., Jin, Q., et al. (2024) · Cell · doi:10.1016/j.cell.2023.12.013 · Cited by 243 · see citing works
Long-Read DNA Sequencing: Recent Advances and Remaining Challenges
Warburton, P. E., & Sebra, R. P. (2023) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-101722-103045 · Cited by 163 · see citing works
Dileep, V., Boix, C. A., Mathys, H., Marco, A., Welch, G. M., Meharena, H. S., Loon, A., Jeloka, R., Peng, Z., Bennett, D. A., et al. (2023) · Cell · doi:10.1016/j.cell.2023.08.038 · Cited by 130 · see citing works
“Persistent DSBs in neurons could also indirectly impact the 3D genome organization through genome structural variations.(55,56) To explore the genomic consequences of DSBs in AD, we used both human postmortem brain samples and a mouse model of neurodegeneration that recapitulate the pre-symptomatic accumulation of DSB…”
BackgroundA cardiologist’s guide to machine learning in cardiovascular disease prognosis prediction
Kresoja, K., Unterhuber, M., Wachter, R., Thiele, H., & Lurz, P. C. (2023) · Basic Research in Cardiology · doi:10.1007/s00395-023-00982-7 · Cited by 75 · see citing works
“algorithm was able to capture a set of fusion genes that are missed by whole-genome sequencing and was applied successfully to bulk and single-cell genomics in studying structural variation heterogeneity of primary tumors from Hi-C maps [81].”
BackgroundHiSV: A control-free method for structural variation detection from Hi-C data
Li, J., Gao, L., & Ye, Y. (2023) · PLoS Computational Biology · doi:10.1371/journal.pcbi.1010760 · Cited by 66 · see citing works
“The new method EagleC [11] trained a multilabel classifier using several cancer cell lines and a GM12878 cell line to predict a full range of SVs.”
Chang, L., Xie, Y., Taylor, B., Wang, Z., Sun, J., Armand, E. J., Mishra, S. V., Xu, J., Tastemel, M., Lie, A., et al. (2024) · Nature Biotechnology · doi:10.1038/s41587-024-02447-1 · Cited by 69 · see citing works
“1.9) 95 .”
InfluentialArtificial intelligence-aided optical imaging for cancer theranostics
Xu, M., Chen, Z., Zheng, J., Zhao, Q., & Yuan, Z. (2023) · Seminars in Cancer Biology · doi:10.1016/j.semcancer.2023.06.003 · Cited by 55 · see citing works
Bioinformatic analysis of the ribosomal proteins from the different strains of Candida fungi
(2023) · Systems Biology and Bioinformatics International Young Scientists School (SBB) · doi:10.18699/sbb-2023-51 · Cited by 53 · see citing works
(2023) · Systems Biology and Bioinformatics International Young Scientists School (SBB) · doi:10.18699/sbb-2023-41 · Cited by 53 · see citing works
(2023) · Systems Biology and Bioinformatics International Young Scientists School (SBB) · doi:10.18699/sbb-2023-38 · Cited by 53 · see citing works
(2023) · Systems Biology and Bioinformatics International Young Scientists School (SBB) · doi:10.18699/sbb-2023-44 · Cited by 53 · see citing works
(2023) · Systems Biology and Bioinformatics International Young Scientists School (SBB) · doi:10.18699/sbb-2023-45 · Cited by 53 · see citing works
(2023) · Systems Biology and Bioinformatics International Young Scientists School (SBB) · doi:10.18699/sbb-2023-49 · Cited by 53 · see citing works
Xie, T., Danieli‐Mackay, A., Buccarelli, M., Barbieri, M., Papadionysiou, I., D’Alessandris, Q. G., Robens, C., Übelmesser, N., Vinchure, O. S., Lauretti, L., et al. (2024) · Nature Communications · doi:10.1038/s41467-024-48053-2 · Cited by 36 · see citing works
“1a), but as Hi-C is more sensitive in detecting them 29 , we could identify an additional 902 fusions using EagleC and 492using hicbreak fi nder (SupplementaryData1)with137eventsfound in both Hi-C and RNA-seq data.”
BackgroundMethodInfluentialWang, M., Sunkel, B. D., Ray, W. C., & Stanton, B. Z. (2022) · BMC Molecular and Cell Biology · doi:10.1186/s12860-022-00433-6 · Cited by 36 · see citing works
“Structural variation and chromatin domains Recent comparative studies in whole genome sequencing (WGS), chromatin sequencing, and imaging methods, have revealed that Hi-C, especially in combination with whole genome sequencing, can be extremely powerful in identifying structural variation (SV) [30, 31].”
BackgroundPokrovac, I., & Pezer, Ž. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.1060898 · Cited by 32 · see citing works
UAV-to-UAV Small Target Detection Method Based on Deep Learning in Complex Scenes
Zuo, G., Zhou, K., & Wang, Q. (2024) · IEEE Sensors Journal · doi:10.1109/jsen.2024.3505551 · Cited by 34 · see citing works
Artificial intelligence-powered nanomedicine
Luo, G., 蒋显超, Hu, C., Li, L., Yan, L., Xiao, G., Duo, Y., & Zhang, X. (2026) · Chemical Society Reviews · doi:10.1039/d5cs01406a · Cited by 33 · see citing works
Botten, G. A., Zhang, Y., Dudnyk, K., Kim, Y. J., Liu, X., Sanders, J. T., Imanci, A., Droin, N. M., Cao, H., Kaphle, P., et al. (2023) · Blood · doi:10.1182/blood.2022017555 · Cited by 27 · see citing works
Szymaszek, P., Tyszka‐Czochara, M., & Ortyl, J. (2024) · Molecules · doi:10.3390/molecules29133164 · Cited by 26 · see citing works
“This framework uses DL to identify genomic structural variations [158].”
MethodDiffDomain enables identification of structurally reorganized topologically associating domains
Hua, D., Gu, M., Zhang, X., Du, Y., Xie, H., Qi, L., Du, X., Bai, Z., Zhu, X., & Tian, D. (2024) · Nature Communications · doi:10.1038/s41467-024-44782-6 · Cited by 24 · see citing works
The role of structural variations in Alzheimer’s disease and other neurodegenerative diseases
Wang, H., Wang, L., Schellenberg, G. D., & Lee, W. (2023) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2022.1073905 · Cited by 25 · see citing works
Zhu, Y., Lee, H., White, S. M., Weimer, A. K. K., Monte, E., Horning, A. M., Nevins, S. A., Esplin, E. D., Paul, K., Krieger, G., et al. (2024) · Nature Cancer · doi:10.1038/s43018-024-00823-z · Cited by 24 · see citing works
“Sequencing was carried out using the novel ultrahigh-throughput UG-100 (Ultima Genomics) sequencer.”
The 3D genome and its impacts on human health and disease
Wang, S., Luo, Z., Liu, W., Hu, T., Zhao, Z., Rosenfeld, M. G., & Song, X. (2023) · Life Medicine · doi:10.1093/lifemedi/lnad012 · Cited by 22 · see citing works
“3Disease Browser is the first disease-centric browser [108], and the recent new web EagleC can more comprehensively identify genome structural variation (SV) [109], while the TADeus2 server can quantify and sort SV pathogenicity [110].”
Comparison of Long-Read Methods for Sequencing and Assembly of Lepidopteran Pest Genomes
Zhang, T., Xing, W., Wang, A., Zhang, N., Jia, L., Ma, S., & Xia, Q. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms24010649 · Cited by 22 · see citing works
Enhancer-promoter hubs organize transcriptional networks promoting oncogenesis and drug resistance
Perlman, B. S., Burget, N. G., Zhou, Y., Schwartz, G. W., Petrovic, J., Modrusan, Z. D., & Faryabi, R. B. (2024) · Nature Communications · doi:10.1038/s41467-024-52375-6 · Cited by 23 · see citing works
Cohesin regulation and roles in chromosome structure and function
Rittenhouse, N., & Dowen, J. M. (2024) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2024.102159 · Cited by 19 · see citing works
3D chromatin hubs as regulatory units of identity and survival in human acute leukemia
Gambi, G., Boccalatte, F. E., Rodriguez-Hernaez, J., Lin, Z., Nadorp, B., Polyzos, A., Tan, J., Avrampou, K., Inghirami, G., Kentsis, A., et al. (2024) · Molecular Cell · doi:10.1016/j.molcel.2024.11.040 · Cited by 18 · see citing works
Narang, S., Ghebrechristos, Y. E., Evensen, N. A., Murrell, N., Jasinski, S., Ostrow, T. H., Teachey, D. T., Raetz, E. A., Lionnet, T., Witkowski, M. T., et al. (2024) · Nature Communications · doi:10.1038/s41467-024-51492-6 · Cited by 19 · see citing works
Spatial 3D genome organization reveals intratumor heterogeneity in primary glioblastoma samples
Wang, Q., Wang, J., Mathur, R., Youngblood, M. W., Jin, Q., Hou, Y., Stasiak, L. A., Luan, Y., Zhao, H., Hilz, S., et al. (2025) · Science Advances · doi:10.1126/sciadv.adn2830 · Cited by 17 · see citing works
Halawani, R., Büchert, M., & Chen, Y. P. (2023) · Computers in Biology and Medicine · doi:10.1016/j.compbiomed.2023.107274 · Cited by 16 · see citing works
The shape of chromatin: insights from computational recognition of geometric patterns in Hi-C data
Raffo, A., & Paulsen, J. (2023) · Briefings in Bioinformatics · doi:10.1093/bib/bbad302 · Cited by 15 · see citing works
“In Hi-C data, such alterations typically give rise to single-or paired-rectangles with strong chromatin interaction signal at one of the vertices [20].”
BackgroundTracing cancer evolution and heterogeneity using Hi-C
Erdmann-Pham, D. D., Batra, S. S., Turkalo, T. K., Durbin, J., Blanchette, M., Yeh, I., Shain, A. H., Bastian, B. C., Song, Y. S., Rokhsar, D. S., et al. (2023) · Nature Communications · doi:10.1038/s41467-023-42651-2 · Cited by 16 · see citing works
Three-dimensional regulatory hubs support oncogenic programs in glioblastoma
Breves, S. L., Giammartino, D. C. D., Nicholson, J., Cirigliano, S. M., Mahmood, S. R., Lee, U. J., Martinez‐Fundichely, A., Jungverdorben, J., Singhania, R., Rajkumar, S., et al. (2024) · Molecular Cell · doi:10.1016/j.molcel.2025.03.007 · Cited by 15 · see citing works
A deep learning-based method enables the automatic and accurate assembly of chromosome-level genomes
Jiang, Z., Peng, Z., Wei, Z., Sun, J., Luo, Y., Bie, L., Zhang, G., & Wang, Y. (2024) · Nucleic Acids Research · doi:10.1093/nar/gkae789 · Cited by 14 · see citing works
Ye, Y., Zhang, S., Gao, L., Zhu, Y., & Zhang, J. (2023) · Advanced Science · doi:10.1002/advs.202205162 · Cited by 12 · see citing works
Wang, X., & Yue, F. (2023) · Bioinformatics · doi:10.1093/bioinformatics/btad389 · Cited by 12 · see citing works
“Next, we evaluated the concordance of HiCLift and read remapping in detecting specific contact patterns, such as those induced by chromatin compartments, topologically associating domains (TADs), chromatin loops, and interchromosomal translocations (Wang et al. 2022) (Fig.”
Zhang, H., Liu, B., Cheng, J., Li, Z., Jia, M.-F., Li, M., Zhao, L., Wang, L., & Xi, Y. (2024) · Neoplasia · doi:10.1016/j.neo.2024.101025 · Cited by 12 · see citing works
Shinde, S. S., Sharma, A., & Vijay, N. (2023) · Frontiers in Genetics · doi:10.3389/fgene.2023.1180658 · Cited by 11 · see citing works
“), Hi-C (high-resolution chromosome conformation capture) (Kronenberg et al., 2021; Wang et al., 2022), or optical mapping (Weissensteiner et al.”
BackgroundGenome structure mapping with high-resolution 3D genomics and deep learningPreprint
Hong, C. K., Feng, F., Ramanathan, V., Liu, J., & Hansen, A. S. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.05.06.650874 · Cited by 10 · see citing works
Emerging methods and applications in 3D genomics
Pedrotti, S., Castiglioni, I., Estrada, C. P., Zhao, L., Chen, J., Crosetto, N., & Bienko, M. (2024) · Current Opinion in Cell Biology · doi:10.1016/j.ceb.2024.102409 · Cited by 9 · see citing works
Bao, X., Yang, Y., Niu, W., Wang, Y., Shi, H. S., Zou, Y., Liu, Y., Wan, C., Ren, J., Lü, S., et al. (2024) · Clinica Chimica Acta · doi:10.1016/j.cca.2024.120089 · Cited by 9 · see citing works
Yu, S., Fu, Y., Wong, J. H.-Y., Wang, J., Zhao, H., Zhao, J., & Yue, F. (2025) · Nucleic Acids Research · doi:10.1093/nar/gkaf1109 · Cited by 9 · see citing works
“Several computational tools, such as EagleC [ 19 ], HiNT [ 20 ], HiCBreakFinder [ 21 ], have been developed for this purpose.”
InfluentialThe promising role of nanopore sequencing in cancer diagnostics and treatment
Su, X., Lin, Q., Liu, B., Zhou, C., Lu, L., Lin, Z., Si, J., Ding, Y., & Duan, S. (2025) · Cell Insight · doi:10.1016/j.cellin.2025.100229 · Cited by 8 · see citing works
Xu, X., Gan, J., Gao, Z., Li, R., Huang, D., Lin, L., Luo, Y., Yang, Q., Xu, J., Li, Y., et al. (2025) · Communications Biology · doi:10.1038/s42003-025-07647-2 · Cited by 8 · see citing works
Hi-C analysis of genomic contacts revealed karyotype abnormalities in chicken HD3 cell line
Maslova, A., Plotnikov, V., Nuriddinov, M., Gridina, M. M., Fishman, V., & Krasikova, A. (2023) · BMC Genomics · doi:10.1186/s12864-023-09158-y · Cited by 6 · see citing works
3C methods in cancer research: recent advances and future prospects
Yoon, I., Kim, U., Jung, K. O., Song, Y., Park, T., & Lee, D.-S. (2024) · Experimental & Molecular Medicine · doi:10.1038/s12276-024-01236-9 · Cited by 7 · see citing works
“Recent studies have highlighted the power of Hi-C, particularly when combined with whole-genome sequencing, to identify SVs in the human genome, particularly in the context of cancer 10,51 .”
BackgroundStephenson-Gussinye, A., & Furlan-Magaril, M. (2023) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2023.1219968 · Cited by 7 · see citing works
“Also, EagleC allows to recall gene fusions resulting from SVs (Wang et al., 2022) (Figure 1), and SVInterpreter, a website application, helps to predict the phenotypic outcome and the possible clinical implications of several types of SVs (Fino et al.”
BackgroundCheng, Y., Li, D., Bu, D., Han, L., Zhao, Y., Liu, J., Guo, X., Xu, H., & Yu, J. (2024) · Frontiers in Bioscience-Landmark · doi:10.31083/j.fbl2901002 · Cited by 6 · see citing works
“SVs are very prevalent in breast cancer cell lines [12].”
BackgroundCelus, C. S., Ahmad, S. F., Gangwar, M., Kumar, S., & Kumar, A. (2024) · Gene · doi:10.1016/j.gene.2024.149159 · Cited by 5 · see citing works
Wu, J., Chu, A., Cho, J., Movahed-Ezazi, M., Galbraith, K., Fang, C. S., Yang, Y., Schroff, C., Sikkink, K. L., Perez-Arreola, M., et al. (2026) · Cell Genomics · doi:10.1016/j.xgen.2026.101166 · Cited by 4 · see citing works
Schmitt, A. D., Sikkink, K. L., Ahmed, A. A., Melnyk, S., Reid, D., Meter, L. V., Guest, E. M., Lansdon, L. A., Pastinen, T., Pushel, I., et al. (2024) · Cancers · doi:10.3390/cancers16172936 · Cited by 4 · see citing works
“These findings are apparent when the Hi-C data are viewed at the chromosome scale (Figure 2A), where the “bowtie” signal pattern in the Hi-C data is known to be indicative of a reciprocal inter-chromosomal rearrangement [27].”
BackgroundGridina, M. M., Lagunov, T. A., Belokopytova, P. S., Torgunakov, N., Nuriddinov, M., Nurislamov, A. R., Назаренко, Л. П., Кашеварова, А. А., Лопаткина, М. Е., Vasilyev, S. А., et al. (2025) · Genome Medicine · doi:10.1186/s13073-025-01471-3 · Cited by 4 · see citing works
“We run EagleC [36] with standard parameters (threshold equals to 0.9) and calculate F 1-score for each type of rearrangement for 65 human samples.”
InfluentialAutoHiC: a deep-learning method for automatic and accurate chromosome-level genome assemblyPreprint
Jiang, Z., Peng, Z., Luo, Y., Bie, L., & Wang, Y. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.08.27.555031 · Cited by 4 · see citing works
Droplet Hi-C for Fast and Scalable Profiling of Chromatin Architecture in Single CellsPreprint
Chang, L., Xie, Y., Taylor, B., Wang, Z., Sun, J., Tan, T. M., Bejar, R. L., Chen, C. C., Furnari, F. B., Hu, M., et al. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.04.18.590148 · Cited by 4 · see citing works
“1.9) 88 .”
InfluentialSchmitt, A. D., Sikkink, K. L., Ahmed, A. A., Melnyk, S., Reid, D., Meter, L. V., Guest, E. M., Lansdon, L. A., Pastinen, T., Pushel, I., et al. (2024) · medRxiv · doi:10.1101/2024.05.10.24306838 · Cited by 4 · see citing works
He, S., Song, B., Tang, Y., Qu, X., Li, X., Yang, X., Bao, Q., Fang, L., Jiang, J., Tang, Z., et al. (2025) · iScience · doi:10.1016/j.isci.2025.111983 · Cited by 3 · see citing works
The Bioinformatic Applications of Hi-C and Linked Reads
Jiang, L., Quail, M. A., Fraser-Govil, J., Wang, H., Shi, X., Oliver, K., Gómez, E., Yang, F., & Ning, Z. (2024) · Genomics Proteomics & Bioinformatics · doi:10.1093/gpbjnl/qzae048 · Cited by 3 · see citing works
Galbraith, K., Wu, J., Sikkink, K. L., Mohamed, H., Reid, D., Perez-Arreola, M., Belton, J.-M., Nomikou, S., Melnyk, S., Yang, Y., et al. (2025) · Journal of Molecular Diagnostics · doi:10.1016/j.jmoldx.2025.01.007 · Cited by 3 · see citing works
HYENA detects oncogenes activated by distal enhancers in cancer
Yu, A., Yesilkanal, A. E., Thakur, A., Wang, F., Yang, Y., Phillips, W., Wu, X., Muir, A., He, X., Spitz, F., et al. (2024) · Nucleic Acids Research · doi:10.1093/nar/gkae646 · Cited by 2 · see citing works
A fast and adaptive detection framework for genome-wide chromatin loop mapping from Hi-C dataPreprint
Chen, S., Wang, J., Jung, I., Qiu, Z., Gao, X., & Li, Y. (2024) · Genome Research · doi:10.1101/gr.279274.124 · Cited by 3 · see citing works
Oncogenic drivers shape the tumor microenvironment in human gliomasPreprint
Zhao, B., Cho, C. Y., Ye, L., Keal, T., Mitchell, T., Martín-Barrio, I., Faraj, C. A., Unal, M., Alsing, J., Lawson, N. M., et al. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.05.16.654515 · Cited by 3 · see citing works
Liang, S., Ament, C., Klausner, M., Stinnett, V., Morsberger, L. A., Ghabrial, J., Middlezong, W., Schmitt, A. D., Hastie, A. R., & Zou, Y. S. (2025) · Genes · doi:10.3390/genes16091093 · Cited by 2 · see citing works
“1.9) [ 30] to call rearrangement breakpoints, and Juicer Tools (v1.”
InfluentialStrand-seq and the future of personalized genomics
Hanlon, V. C. T., & Lansdorp, P. (2026) · Nature Genetics · doi:10.1038/s41588-026-02548-4 · Cited by 1 · see citing works
Liu, W., Zhong, W., Giusti‐Rodríguez, P., Jiang, Z., Wang, G. W., Sun, H., Hu, M., & Li, Y. (2024) · Briefings in Bioinformatics · doi:10.1093/bib/bbae426 · Cited by 3 · see citing works
Stephenson-Gussinye, A., Rendón-Bautista, L. A., Ruiz-Medina, B. E., Olais, E. B., Pérez‐Molina, R., Marcial-Medina, C., Chávarri-Guerra, Y., Soto‐Pérez‐de‐Celis, E., Morales-Alfaro, A., Esquivel-López, A., et al. (2024) · Frontiers in Molecular Biosciences · doi:10.3389/fmolb.2024.1420308 · Cited by 2 · see citing works
Charm is a flexible pipeline to simulate chromosomal rearrangements on Hi-C-like data
Nuriddinov, M., Belokopytova, P. S., & Fishman, V. (2025) · NAR Genomics and Bioinformatics · doi:10.1093/nargab/lqaf081 · Cited by 2 · see citing works
“We employed Hi-C maps simulating different SV types to benchmark EagleC deep-learning framework 8 .”
MethodXie, T., Danieli‐Mackay, A., Buccarelli, M., Barbieri, M., Papadionysiou, I., D’Alessandris, Q. G., Übelmesser, N., Vinchure, O. S., Lauretti, L., Fotia, G., et al. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.04.20.537702 · Cited by 2 · see citing works
“3) annotate-genefusion function, as it can additionally detect intronic gene fusions (Wang et al., 2022).”
BackgroundMethodInfluentialLee, H., Niida, H., Sung, S.-H., & Lee, J. (2024) · Nucleic Acids Research · doi:10.1093/nar/gkae842 · Cited by 1 · see citing works
Zhai, H., Dong, C., Wang, T., & Luo, J. (2024) · Interdisciplinary Sciences Computational Life Sciences · doi:10.1007/s12539-024-00677-0 · Cited by 1 · see citing works
Chromatin hubs drive key regulatory networks in leukemia
Swaroop, A., & Yue, F. (2025) · Molecular Cell · doi:10.1016/j.molcel.2024.12.011 · Cited by 1 · see citing works
Li, P., Feng, J., Guo, J., & Liu, J. (2025) · IEEE Transactions on Computational Biology and Bioinformatics · doi:10.1109/tcbbio.2025.3614663 · Cited by 1 · see citing works
“In the following, we employ the EagleC framework [27] for the evaluation of detecting structural variations (SVs) using high-resolution Hi-C data at 10 Kb.”
Feng, L., Liu, Q., Liu, X., Wang, S., Li, J., Han, Y., Mu, X., Wang, Y., Jiang, J., Wu, C., et al. (2026) · The American Journal of Surgical Pathology · doi:10.1097/pas.0000000000002533 · Cited by 1 · see citing works
Moreno-Rodriguez, T., ZHANG, M., Lundberg, A., Shrestha, R., Sjöström, M., Pasam, A., Chan, J., Devereux, L., Foye, A., Zhu, X., et al. (2026) · Genome biology · doi:10.1186/s13059-026-04074-2 · Cited by 1 · see citing works
“Structural variations were predicted using the CNV-normalized matrices calculated by NeoLoopFinder as input for the predictSV tool and reformatted using the reformatSV tool from EagleC2 version 2.1.1 [89].”
Influential[Advances in methods and applications of single-cell Hi-C data analysis].
Gong, H., Ma, F., & Zhang, X. (2023) · PubMed Central · doi:10.7507/1001-5515.202303046 · Cited by 1 · see citing works
Wang, Y., Sun, Y., Liu, Z., Chen, B., Chen, H., Ren, C., Lin, X., Hu, P., Jia, P., Xu, X., et al. (2024) · Quantitative Biology · doi:10.1002/qub2.52 · Cited by 2 · see citing works
“C data [21].”
Biswas, T., Li, H., & Rohner, N. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.09.30.615929 · Cited by 1 · see citing works
The 3D genome of pediatric B-cell precursor acute lymphoblastic leukemiaPreprint
Moura‐Castro, L. H., Aydın, E., Dushime, G. T., Woodward, E. L., Castor, A., Gunnarsson, R., Lilljebjörn, H., Olsson, L., Fioretos, T., Johansson, B., et al. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.07.22.666073 · Cited by 1 · see citing works
Benetti, C., Almolla, O., Gambi, G., Massa, A., Aifantis, I., Tsirigos, A., & Boccalatte, F. E. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2025.12.23.696007 · Cited by 1 · see citing works
Филостратиграфический анализ генов, ассоциированных с онкологическими заболеваниями человека
(2023) · Systems Biology and Bioinformatics International Young Scientists School (SBB) · doi:10.18699/sbb-2023-12
Роль гена MAKR6 в регуляции развития сосудистой системы в корне Arabidopsis thaliana L.
(2023) · Systems Biology and Bioinformatics International Young Scientists School (SBB) · doi:10.18699/sbb-2023-31
(2023) · Systems Biology and Bioinformatics International Young Scientists School (SBB) · doi:10.18699/sbb-2023-35
(2023) · Systems Biology and Bioinformatics International Young Scientists School (SBB) · doi:10.18699/sbb-2023-24
Gut microbiome stability: theoretical ecology and data driven approaches
(2023) · Systems Biology and Bioinformatics International Young Scientists School (SBB) · doi:10.18699/sbb-2023-48
(2023) · Systems Biology and Bioinformatics International Young Scientists School (SBB) · doi:10.18699/sbb-2023-07
(2023) · Systems Biology and Bioinformatics International Young Scientists School (SBB) · doi:10.18699/sbb-2023-29
(2023) · Systems Biology and Bioinformatics International Young Scientists School (SBB) · doi:10.18699/sbb-2023-37
Анализ вариантов в генах адипоцитокинов методом таргетного секвенирования
(2023) · Systems Biology and Bioinformatics International Young Scientists School (SBB) · doi:10.18699/sbb-2023-02
(2023) · Systems Biology and Bioinformatics International Young Scientists School (SBB) · doi:10.18699/sbb-2023-03
Анализ регионов высокой гомозиготности в популяциях коренного населения Северной Евразии
(2023) · Systems Biology and Bioinformatics International Young Scientists School (SBB) · doi:10.18699/sbb-2023-15
(2023) · Systems Biology and Bioinformatics International Young Scientists School (SBB) · doi:10.18699/sbb-2023-18
(2023) · Systems Biology and Bioinformatics International Young Scientists School (SBB) · doi:10.18699/sbb-2023-23
Высокопроизводительная система анализа эффективности сплайсинга
(2023) · Systems Biology and Bioinformatics International Young Scientists School (SBB) · doi:10.18699/sbb-2023-21
Mapping of the Ant25 locus participating in proanthocyanidin synthesis in barley
(2023) · Systems Biology and Bioinformatics International Young Scientists School (SBB) · doi:10.18699/sbb-2023-50
(2023) · Systems Biology and Bioinformatics International Young Scientists School (SBB) · doi:10.18699/sbb-2023-40
Разработка методов биоинформатического анализа эндосимбиотических бактерий
(2023) · Systems Biology and Bioinformatics International Young Scientists School (SBB) · doi:10.18699/sbb-2023-16
(2023) · Systems Biology and Bioinformatics International Young Scientists School (SBB) · doi:10.18699/sbb-2023-11
(2023) · Systems Biology and Bioinformatics International Young Scientists School (SBB) · doi:10.18699/sbb-2023-28
- Authors
- Wang, X., Luan, Y., & Yue, F.
- Affiliations
- Northwestern University (US)
- Corresponding author
- Yue, Feng
- Venue
- Science Advances
- Published
- 2022-06-17
- Volume
- 8
- Issue
- 24
- Pages
- eabn9215-eabn9215
- ISSN
- 2375-2548 (ISSN-L)
- PMC
- PMC9200291
- OpenAlex
- W4282929864
- Cited by
- 148
- References
- 60
- Citations by year
- 2026: 16 · 2025: 20 · 2024: 36 · 2023: 73 · 2022: 3
- FWCI
- 19.91
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- cc-by-nc
- Locations
- Science Advances (publishedVersion, cc-by-nc)
- PubMed Central (publishedVersion, cc-by-nc)
- PubMed (publishedVersion)
- Funders
- National Human Genome Research Institute (R01HG011207, R01HG009906, U24HG012070)
- National Institute of General Medical Sciences (R35GM124820)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Chromatin Dynamics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genome Rearrangement Algorithms
- Keywords
- structural variant calling, Hi-C, contact maps, deep learning, ensemble learning, fusion genes, chromatin interactions, single-cell Hi-C, cancer genome, HiChIP, ChIA-PET, Capture Hi-C
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review