Genome structural variation discovery and genotyping

Velvet: Algorithms for de novo short read assembly using de Bruijn graphsPreprint

Zerbino, D. R., & Birney, E. (2008) · Genome Research · doi:10.1101/gr.074492.107 · Cited by 9,587

A map of human genome variation from population-scale sequencing.

The 1000 Genomes Project Consortium (2010) · Nature · doi:10.1038/nature09534 · Cited by 7,877

Global variation in copy number in the human genome

Redon, R., Ishikawa, S., Fitch, K. R., Feuk, L., Perry, G. H., Andrews, T. D., Fiegler, H., Shapero, M. H., Carson, A. R., Chen, W., et al. (2006) · Nature · doi:10.1038/nature05329 · Cited by 4,377

Accurate whole human genome sequencing using reversible terminator chemistry

Bentley, D. R., Balasubramanian, S., Swerdlow, H. P., Smith, G. P., Milton, J., Brown, C. G., Hall, K. P., Evers, D. J., Barnes, C. L., Bignell, H. R., et al. (2008) · Nature · doi:10.1038/nature07517 · Cited by 3,684

ABySS: A parallel assembler for short read sequence dataPreprint

Simpson, J. T., Wong, K., Jackman, S. D., Schein, J. E., Jones, S. J. M., & Birol, İ. (2009) · Genome Research · doi:10.1101/gr.089532.108 · Cited by 3,658

De novo assembly of human genomes with massively parallel short read sequencing

Li, R., Zhu, H., Ruan, J., Qian, W., Fang, X., Shi, Z., Li, Y., Li, S., Shan, G., Kristiansen, K., et al. (2010) · Genome Research · doi:10.1101/gr.097261.109 · Cited by 2,926

Detection of large-scale variation in the human genome

Iafrate, A. J., Feuk, L., Rivera, M. N., Listewnik, M. L., Donahoe, P. K., Qi, Y., Scherer, S. W., & Lee, C. (2004) · Nature Genetics · doi:10.1038/ng1416 · Cited by 2,892

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

Miller, D. T., Adam, M. P., Aradhya, S., Biesecker, L. G., Brothman, A. R., Carter, N. P., Church, D. M., Crolla, J. A., Eichler, E. E., Epstein, C. J., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.04.006 · Cited by 2,882

Strong association of de novo copy number mutations with autism

Sebat, J., Lakshmi, B., Malhotra, D., Troge, J., Lese-Martin, C., Walsh, T., Yamrom, B., Yoon, S., Krasnitz, A., Kendall, J., et al. (2007) · Science · doi:10.1126/science.1138659 · Cited by 2,795

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

Schouten, J. P. (2002) · Nucleic Acids Research · doi:10.1093/nar/gnf056 · Cited by 2,705

MLPA-Based Analysis of Copy Number Variation in Plant Populations

Samelak-Czajka, A., Marszałek-Zeńczak, M., Marcinkowska, M., Kozłowski, P., Figlerowicz, M., & Żmieńko, A. (2017) · Frontiers in Plant Science · doi:10.3389/fpls.2017.00222 · Cited by 21

An Extended Targeted Copy Number Variation Detection Array Including 187 Genes for the Diagnostics of Neuromuscular Disorders

Sagath, L., Lehtokari, V., Välipakka, S., Udd, B., Wallgren‐Pettersson, C., Pelin, K., & Kiiski, K. (2018) · Journal of Neuromuscular Diseases · doi:10.3233/jnd-170298 · Cited by 21

Specific LTR-Retrotransposons Show Copy Number Variations between Wild and Cultivated Sunflowers

Mascagni, F., Vangelisti, A., Giordani, T., Cavallini, A., & Natali, L. (2018) · Genes · doi:10.3390/genes9090433 · Cited by 21

Prioritisation of structural variant calls in cancer genomes

Ahdesmaki, M. J., Chapman, B., Cingolani, P., Hofmann, O., Sidoruk, A., Lai, Z., Zakharov, G. A., Rodichenko, M., Alperovich, M., Jenkins, D. F., et al. (2017) · PeerJ · doi:10.7717/peerj.3166 · Cited by 21

VALOR2: characterization of large-scale structural variants using linked-reads

Karaoğlanoğlu, F., Ricketts, C., Rasekh, M. E., Ebren, E., Hajirasouliha, I., & Alkan, C. (2020) · Genome biology · doi:10.1186/s13059-020-01975-8 · Cited by 19

Structural Variations Affecting Genes and Transposable Elements of Chromosome 3B in Wheats

Oliveira, R. D., Rimbert, H., Balfourier, F., Kitt, J., Dynomant, E., Vrána, J., Doležel, J., Cattonaro, F., Paux, E., & Choulet, F. (2020) · Frontiers in Genetics · doi:10.3389/fgene.2020.00891 · Cited by 21

Structural and copy number variants in the human genome: implications for psychiatry

Clair, D. S. (2013) · The British Journal of Psychiatry · doi:10.1192/bjp.bp.112.109579 · Cited by 21

The mutagenic consequences of defective DNA repair

Németh, E., & Szüts, D. (2024) · DNA repair · doi:10.1016/j.dnarep.2024.103694 · Cited by 20

Advancing crop improvement through GWAS and beyond in mung bean

Ahmed, S. R., Asghar, M. J., Hameed, A., Ghaffar, M., & Shahid, M. (2024) · Frontiers in Plant Science · doi:10.3389/fpls.2024.1436532 · Cited by 22

Comparison of multiple algorithms to reliably detect structural variants in pears

Liu, Y., Zhang, M., Sun, J., Chang, W., Sun, M., Zhang, S., & Wu, J. (2020) · BMC Genomics · doi:10.1186/s12864-020-6455-x · Cited by 20

BreakNet: detecting deletions using long reads and a deep learning approach

Luo, J., Ding, H., Shen, J., Zhai, H., Wu, Z., Yan, C., & Luo, H. (2021) · BMC Bioinformatics · doi:10.1186/s12859-021-04499-5 · Cited by 20

Improved clinical utility of preimplantation genetic testing through the integration of ploidy and common pathogenic microdeletions analyses

Caroselli, S., Figliuzzi, M., Picchetta, L., Cogo, F., Zambon, P., Pergher, I., Girardi, L. D. C., Patassini, C., Poli, M., Bakalova, D. N., et al. (2023) · Human Reproduction · doi:10.1093/humrep/dead033 · Cited by 20

Structural genomic variation and migratory behavior in a wild songbird

Delmore, K. E., Doren, B. M. V., Ullrich, K. K., Curk, T., van der Jeugd, H. P., & Liedvogel, M. (2023) · Evolution Letters · doi:10.1093/evlett/qrad040 · Cited by 26

PeSV-Fisher: Identification of Somatic and Non-Somatic Structural Variants Using Next Generation Sequencing Data

Escaramís, G., Tornador, C., Bassaganyas, L., Rabionet, R., Tubío, J. M. C., Martinez‐Fundichely, A., Cáceres, M., Gut, M., Ossowski, S., & Estivill, X. (2013) · PLoS ONE · doi:10.1371/journal.pone.0063377 · Cited by 21

Applications of systems biology in cancer immunotherapy: from target discovery to biomarkers of clinical outcome

GuhaThakurta, D., Sheikh, N. A., Meagher, T. C., Letarte, S., & Trager, J. B. (2013) · Expert Review of Clinical Pharmacology · doi:10.1586/17512433.2013.811814 · Cited by 20

Heterogeneity in the entire genome for three genotypes of peach [Prunus persica (L.) Batsch] as distinguished from sequence analysis of genomic variants

Fresnedo‐Ramírez, J., Martínez‐García, P. J., Parfitt, D. E., Crisosto, C. H., & Gradziel, T. M. (2013) · BMC Genomics · doi:10.1186/1471-2164-14-750 · Cited by 20

Tropically adapted cattle of Africa: perspectives on potential role of copy number variations

Wang, M. D., Dzama, K., Rees, D. J. G., & Muchadeyi, F. C. (2015) · Animal Genetics · doi:10.1111/age.12391 · Cited by 20

Population Genomics of an Obligately Halophilic Basidiomycete Wallemia ichthyophaga

Gostinčar, C., Sun, X., Zajc, J., Fang, C., Hou, Y., Luo, Y., Gunde‐Cimerman, N., & Song, Z. (2019) · Frontiers in Microbiology · doi:10.3389/fmicb.2019.02019 · Cited by 20

Copy number variations in multiple sclerosis and neuromyelitis optica

Sato, S., Yamamoto, K., Matsushita, T., Isobe, N., Kawano, Y., Iinuma, K., Niino, M., Fukazawa, T., Nakamura, Y., Watanabe, M., et al. (2015) · Annals of Neurology · doi:10.1002/ana.24511 · Cited by 20

Genetics of vesicoureteral reflux and congenital anomalies of the kidney and urinary tract

Lee, K. H., Gee, H. Y., & Shin, J. I. (2017) · Korean journal of urology · doi:10.4111/icu.2017.58.s1.s4 · Cited by 21

Structural variations in livestock genomes and their associations with phenotypic traits: a review

Chen, Y., Khan, M. Z., Wang, X., Liang, H., Ren, W., Kou, X., Liu, X., Chen, W., Peng, Y., & Wang, C. (2024) · Frontiers in Veterinary Science · doi:10.3389/fvets.2024.1416220 · Cited by 20

A Model-Based Clustering Method for Genomic Structural Variant Prediction and Genotyping Using Paired-End Sequencing Data

Hayes, M., Pyon, Y. S., & Li, J. (2012) · PLoS ONE · doi:10.1371/journal.pone.0052881 · Cited by 20

Targeted sequencing of the DMD locus

Aravind, S., Ashley, B., Mannan, A. U., Ganapathy, A., Ramesh, K., Ramachandran, A., Nongthomba, U., & Shastry, A. (2019) · The Indian Journal of Medical Research · doi:10.4103/ijmr.ijmr_290_18 · Cited by 19

Calling large indels in 1047 Arabidopsis with IndelEnsembler

Liu, D., Rajaby, R., Wei, L., Zhang, L., Yang, Z., Yang, Q., & Sung, W.-K. K. (2021) · Nucleic Acids Research · doi:10.1093/nar/gkab904 · Cited by 17

TT-Mars: structural variants assessment based on haplotype-resolved assemblies

Yang, J., & Chaisson, M. (2022) · Genome biology · doi:10.1186/s13059-022-02666-2 · Cited by 16

Genome resequencing and transcriptome profiling reveal molecular evidence of tolerance to water deficit in barley

Qiu, C., Ma, Y., Liu, W., Zhang, S., Wang, Y., Cai, S., Zhang, G., Chater, C., Chen, Z., & Wu, F. (2022) · Journal of Advanced Research · doi:10.1016/j.jare.2022.09.008 · Cited by 19

Detection of trait-associated structural variations using short-read sequencing

Kosugi, S., Kamatani, Y., Harada, K., Tomizuka, K., Momozawa, Y., Morisaki, T., & Terao, C. (2023) · Cell Genomics · doi:10.1016/j.xgen.2023.100328 · Cited by 19

Patients with anorectal malformation and upper limb anomalies: genetic evaluation is warranted

van den Hondel, D., Wijers, C. H. W., van Bever, Y., de Klein, A., Marcelis, C., de Blaauw, I., Sloots, C. E. J., & IJsselstijn, H. (2015) · European Journal of Pediatrics · doi:10.1007/s00431-015-2655-9 · Cited by 19

Selection on Horizontally Transferred and Duplicated Genes in Sinorhizobium (Ensifer), the Root-Nodule Symbionts of Medicago

Epstein, B., Sadowsky, M. J., & Tiffin, P. (2014) · Genome Biology and Evolution · doi:10.1093/gbe/evu090 · Cited by 19

Repeat- and error-aware comparison of deletions

Wittler, R., Marschall, T., Schönhuth, A., & Mäkinen, V. (2015) · Bioinformatics · doi:10.1093/bioinformatics/btv304 · Cited by 19

Local sequence assembly reveals a high-resolution profile of somatic structural variations in 97 cancer genomes

Zhuang, J., & Weng, Z. (2015) · Nucleic Acids Research · doi:10.1093/nar/gkv831 · Cited by 18

Arabidopsis thaliana population analysis reveals high plasticity of the genomic region spanning MSH2, AT3G18530 and AT3G18535 genes and provides evidence for NAHR-driven recurrent CNV events occurring in this location

Żmieńko, A., Samelak-Czajka, A., Kozłowski, P., Szymańska-Lejman, M., & Figlerowicz, M. (2016) · BMC Genomics · doi:10.1186/s12864-016-3221-1 · Cited by 19

Whole-genome analysis of structural variations between Xiang pigs with larger litter sizes and those with smaller litter sizes

Liu, C., Ran, X., Yu, C., Xu, Q., Niu, X., Zhao, P., & Wang, J. (2018) · Genomics · doi:10.1016/j.ygeno.2018.02.005 · Cited by 19

A crowdsourced set of curated structural variants for the human genome

Chapman, L. M., Spies, N., Pai, P., Lim, C. S., Carroll, A. W., Narzisi, G., Watson, C. M., Proukakis, C., Clarke, W. E., Nariai, N., et al. (2020) · PLoS Computational Biology · doi:10.1371/journal.pcbi.1007933 · Cited by 17

Identification of a likely pathogenic structural variation in the LAMA1 gene by Bionano optical mapping

Chen, M., Zhang, M., Qian, Y., Yang, Y., Sun, Y., Liu, B., Wang, L., & Dong, M. (2020) · npj Genomic Medicine · doi:10.1038/s41525-020-0138-z · Cited by 19

Intraspecific Evolution of Human RCCX Copy Number Variation Traced by Haplotypes of the CYP21A2 Gene

Bánlaki, Z., Szabó, J. A., Szilágyi, Á., Patócs, A., Prohászka, Z., Füst, G., & Doleschall, M. (2012) · Genome Biology and Evolution · doi:10.1093/gbe/evs121 · Cited by 20

Expression of epithelial-mesenchymal transition-related genes increases with copy number in multiple cancer types

Zhao, M., Liu, Y., & Qu, H. (2016) · Oncotarget · doi:10.18632/oncotarget.8371 · Cited by 19

Identification of Structural Variation in Chimpanzees Using Optical Mapping and Nanopore Sequencing

Soto, D. C., Shew, C. J., Mastoras, M., Schmidt, J. M., Sahasrabudhe, R. M., Kaya, G., Andrés, A. M., & Dennis, M. Y. (2020) · Genes · doi:10.3390/genes11030276 · Cited by 18

Optical mapping compendium of structural variants across global cattle breeds

Talenti, A., Powell, J., Wragg, D., Chepkwony, M. C., Fisch, A., Ferreira, B. R., Mercadante, M. E. Z., Santos, I. K. F. D. M., Ezeasor, C., Obishakin, E., et al. (2022) · Scientific Data · doi:10.1038/s41597-022-01684-w · Cited by 19

Major impacts of widespread structural variation on sorghumPreprint

Zhang, Z., Viana, J. P. G., Zhang, B., Walden, K. K. O., Paul, H. M., Moose, S. P., Morris, G. P., Daum, C. G., Barry, K., Shakoor, N., et al. (2024) · Genome Research · doi:10.1101/gr.278396.123 · Cited by 19

Advancements in copy number variation screening in herbivorous livestock genomes and their association with phenotypic traits

Liu, X., Chen, W., Huang, B., Wang, X., Peng, Y., Zhang, X., Chai, W., Khan, M. Z., & Wang, C. (2024) · Frontiers in Veterinary Science · doi:10.3389/fvets.2023.1334434 · Cited by 18

Comparative genomic analyses provide new insights into evolutionary history and conservation genomics of gorillas

van der Valk, T., Jensen, A., Caillaud, D., & Guschanski, K. (2024) · BMC Ecology and Evolution · doi:10.1186/s12862-023-02195-x · Cited by 21

A comprehensive review of deep learning-based variant calling methods

Junjun, R., Zhengqian, Z., Ying, W., Jialiang, W., & Liu, Y. (2024) · Briefings in Functional Genomics · doi:10.1093/bfgp/elae003 · Cited by 20

Kled: an ultra-fast and sensitive structural variant detection tool for long-read sequencing data

Zhang, Z., Jiang, T., Li, G., Cao, S., Liu, Y., Liu, B., & Wang, Y. (2024) · Briefings in Bioinformatics · doi:10.1093/bib/bbae049 · Cited by 18

Long-read sequencing of 945 Han individuals identifies structural variants associated with phenotypic diversity and disease susceptibility

Gong, J., Sun, H., Wang, K., Yanhui, Z., Huang, Y., Chen, Q., Qiao, H., Gao, Y., Zhao, J., Ling, Y., et al. (2025) · Nature Communications · doi:10.1038/s41467-025-56661-9 · Cited by 20

BreakSeek: a breakpoint-based algorithm for full spectral range INDEL detection

Zhao, H., & Zhao, F. (2015) · Nucleic Acids Research · doi:10.1093/nar/gkv605 · Cited by 18

Genome-wide copy number profiling using high-density SNP array in chickens

Yi, G., Qu, L., Chen, S., Xu, G., & Yang, N. (2015) · Animal Genetics · doi:10.1111/age.12267 · Cited by 18

Analysis of structural diversity in wolf-like canids reveals post-domestication variants

Ramírez, Ó., Olalde, Í., Berglund, J., Lorente-Galdós, B., Hernández-Rodríguez, J., Quilez, J., Webster, M. T., Wayne, R. K., Lalueza‐Fox, C., Vilà, C., et al. (2014) · BMC Genomics · doi:10.1186/1471-2164-15-465 · Cited by 19

Sprites: detection of deletions from sequencing data by re-aligning split reads

Zhang, Z., Wang, J., Luo, J., Ding, X., Zhong, J., Wang, J., Wu, F., & Pan, Y. F. (2016) · Bioinformatics · doi:10.1093/bioinformatics/btw053 · Cited by 18

Thirteen Years of an International External Quality Assessment Scheme for Genotyping: Results and Recommendations

Haselmann, V., Geilenkeuser, W. J., Helfert, S., Eichner, R., Hetjens, S., Neumaier, M., & Ahmad‐Nejad, P. (2016) · Clinical Chemistry · doi:10.1373/clinchem.2016.254482 · Cited by 18

Analysis of copy number variations in Holstein-Friesian cow genomes based on whole-genome sequence data

Mielczarek, M., Frąszczak, M., Giannico, R., Minozzi, G., Williams, J. L., Wojdak-Maksymiec, K., & Szyda, J. (2017) · Journal of Dairy Science · doi:10.3168/jds.2016-11987 · Cited by 18

Detection of genomic structural variations in Guizhou indigenous pigs and the comparison with other breeds

Liu, C., Ran, X., Wang, J., Li, S., & Liu, J. (2018) · PLoS ONE · doi:10.1371/journal.pone.0194282 · Cited by 18

Landscape of copy number variations in Bos taurus: individual – and inter-breed variability

Mielczarek, M., Frąszczak, M., Nicolazzi, E. L., Williams, J. L., & Szyda, J. (2018) · BMC Genomics · doi:10.1186/s12864-018-4815-6 · Cited by 19

Characterization of Structural Variations in the Context of 3D Chromatin Structure.

Kim, K., Eom, J., & Jung, I. (2019) · PubMed Central · doi:10.14348/molcells.2019.0137 · Cited by 18

SVJedi: genotyping structural variations with long reads

Lecompte, L., Peterlongo, P., Lavenier, D. D., & Lemaitre, C. (2020) · Bioinformatics · doi:10.1093/bioinformatics/btaa527 · Cited by 21

Structural Variants: Mechanisms, Mapping, and Interpretation in Human Genetics

Pande, S., Dawood, M., & Grochowski, C. M. (2025) · Genes · doi:10.3390/genes16080905 · Cited by 22

Rapid genome resequencing of an atoxigenic strain of Aspergillus carbonarius

Cabañes, F. J., Sanseverino, W., Castellá, G., Bragulat, M. R., Cigliano, R. A., & Sánchez, A. (2015) · Scientific Reports · doi:10.1038/srep09086 · Cited by 17

Genome Structural Variation Landscape and Its Selection Signatures in the Fast-growing Strains of the Pacific Oyster, Crassostrea gigas

Jiao, Z., Tian, Y., Hu, B., Li, Q., & Liu, S. (2021) · Marine Biotechnology · doi:10.1007/s10126-021-10060-5 · Cited by 18

SVPath: an accurate pipeline for predicting the pathogenicity of human exon structural variants

Yang, Y., Wang, X., Zhou, D., Wei, D., & Peng, S. (2022) · Briefings in Bioinformatics · doi:10.1093/bib/bbac014 · Cited by 17

Identification of genetic loci conferring seed coat color based on a high-density map in soybean

Yuan, B., Yuan, C., Wang, Y., Liu, X., Qi, G., Wang, Y., Dong, L., Zhao, H., Li, Y., & Dong, Y. (2022) · Frontiers in Plant Science · doi:10.3389/fpls.2022.968618 · Cited by 17

Clonal dynamics and copy number variants by single‐cell analysis in leukemic evolution of myeloproliferative neoplasms

Calabresi, L., Carretta, C., Romagnoli, S., Rotunno, G., Parenti, S., Bertesi, M., Bartalucci, N., Rontauroli, S., Chiereghin, C., Castellano, S., et al. (2023) · American Journal of Hematology · doi:10.1002/ajh.27013 · Cited by 17

k ‐mer‐based GWAS enhances the discovery of causal variants and candidate genes in soybean

Lemay, M., de Ronne, M., Bélanger, R. R., & Belzile, F. J. (2023) · The Plant Genome · doi:10.1002/tpg2.20374 · Cited by 17

Read-depth based approach on whole genome resequencing data reveals important insights into the copy number variation (CNV) map of major global buffalo breeds

Ahmad, S. F., Shailaja, C. C., Vaishnav, S., Kumar, A., Gaur, G. K., Janga, S. C., Ahmad, S. M., Malla, W. A., & Dutt, T. (2023) · BMC Genomics · doi:10.1186/s12864-023-09720-8 · Cited by 17

Genome-wide rare copy number variation screening in ulcerative colitis identifies potential susceptibility loci

Saadati, H. R., Wittig, M., Helbig, I., Häsler, R., Anderson, C. A., Mathew, C. G., Kupčinskas, L., Parkes, M., Karlsen, T. H., Rosenstiel, P. C., et al. (2016) · BMC Medical Genetics · doi:10.1186/s12881-016-0289-z · Cited by 17

A genome-wide survey of copy number variations reveals an asymmetric evolution of duplicated genes in rice

Zhao, F., Wang, Y., Zheng, J., Wen, Y., Qu, M., Kang, S., Wu, S., Deng, X., Hong, K., Li, S., et al. (2020) · BMC Biology · doi:10.1186/s12915-020-00798-0 · Cited by 17

Detection of Structural Variants Involving Repetitive Regions in the Reference Genome

Lee, H., Popodi, E. M., Foster, P. L., & Tang, H. (2014) · Journal of Computational Biology · doi:10.1089/cmb.2013.0129 · Cited by 17

Homozygous deletions at 3p22, 5p14, 6q15, and 9p21 result in aberrant expression of tumor suppressor genes in gastric cancer

Lee, B., Yoon, K., Lee, S., Kang, J. M., Kim, J., Shim, S. H., Kim, H., Song, S., Naka, K., Kim, A. K., et al. (2014) · Genes Chromosomes and Cancer · doi:10.1002/gcc.22226 · Cited by 17

Allele-specific copy-number discovery from whole-genome and whole-exome sequencing

Wang, W., Wang, W. W., Sun, W., Crowley, J. J., & Szatkiewicz, J. (2015) · Nucleic Acids Research · doi:10.1093/nar/gkv319 · Cited by 17

Detailed analysis of inversions predicted between two human genomes: errors, real polymorphisms, and their origin and population distribution

Vicente-Salvador, D., Puig, M., Gayà‐Vidal, M., Pacheco, S., Giner-Delgado, C., Noguera, I., Izquierdo, D., Martinez‐Fundichely, A., Ruiz‐Herrera, A., Estivill, X., et al. (2016) · Human Molecular Genetics · doi:10.1093/hmg/ddw415 · Cited by 18

Emerging real-time technologies in molecular medicine and the evolution of integrated ‘pharmacomics’ approaches to personalized medicine and drug discovery

Milward, E. A., Daneshi, N., & Johnstone, D. M. (2012) · Pharmacology & Therapeutics · doi:10.1016/j.pharmthera.2012.08.008 · Cited by 17

Advances and prospects of large DNA fragment editing in plants

Zhao, Y., Liang, Y., Ni, Z., Sun, Q., Zong, Y., & Wang, Y. (2025) · Nature Plants · doi:10.1038/s41477-025-02160-0 · Cited by 17

Variation burst during dedifferentiation and increased CHH-type DNA methylation after 30 years of in vitro culture of sweet orange

Wang, X., Ke, L., Wang, S., Fu, J., Xu, J., Hao, Y., Kang, C., Guo, W., Deng, X., & Xu, Q. (2022) · Horticulture Research · doi:10.1093/hr/uhab036 · Cited by 18

Genomic characterization of the world’s longest selection experiment in mouse reveals the complexity of polygenic traits

Palma-Vera, S., Reyer, H., Langhammer, M., Reinsch, N., Derežanin, L., Fickel, J., Qanbari, S., Weitzel, J. M., Franzenburg, S., Hemmrich‐Stanisak, G., et al. (2022) · BMC Biology · doi:10.1186/s12915-022-01248-9 · Cited by 16

Structural genomic variation in the inbred Scandinavian wolf population contributes to the realized genetic load but is positively affected by immigration

Smeds, L., Huson, L. S. A., & Ellegren, H. (2024) · Evolutionary Applications · doi:10.1111/eva.13652 · Cited by 20

TargetCall: eliminating the wasted computation in basecalling via pre-basecalling filtering

Cavlak, M. B., Singh, G., Alser, M., Fırtına, C., Lindegger, J., Sadrosadati, M., Ghiasi, N. M., Alkan, C., & Mutlu, O. (2024) · Frontiers in Genetics · doi:10.3389/fgene.2024.1429306 · Cited by 16

Piecing together the puzzle: nanopore technology in detection and quantification of cancer biomarkers

Vu, T., Davidson, S.-L., Borgesi, J., Mowla, M., Jeon, T., & Shim, J. (2017) · RSC Advances · doi:10.1039/c7ra08063h · Cited by 18

Genomic Copy Number Variation Study of Nine Macaca Species Provides New Insights into Their Genetic Divergence, Adaptation, and Biomedical Application

Li, J., Fan, Z., Shen, F., Pendleton, A. L., Song, Y., Xing, J., Yue, B., Kidd, J. M., & Li, J. (2020) · Genome Biology and Evolution · doi:10.1093/gbe/evaa200 · Cited by 16

Copy number variation (CNV) identification, interpretation, and database from Brazilian patients

de Godoy, V. C. S. M., Bellucco, F. T. D. S., Colovati, M. E. S., de Oliveira-Júnior, H. R., Moysés‐Oliveira, M., & Melaragno, M. I. (2020) · Genetics and Molecular Biology · doi:10.1590/1678-4685-gmb-2019-0218 · Cited by 17

A study of transposable element-associated structural variations (TASVs) using a de novo-assembled Korean genome

Mun, S., Kim, S., Lee, W., Kang, K., Meyer, T. J., Han, B., Han, K., & Kim, H. (2021) · Experimental & Molecular Medicine · doi:10.1038/s12276-021-00586-y · Cited by 14

Identification and characterization of inheritable structural variations induced by ion beam radiations in rice

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