Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome

DNA sequencing with chain-terminating inhibitors

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A global reference for human genetic variation

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Minimap2: Pairwise alignment for nucleotide sequences

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The sequence of the human genome

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BUSCO: assessing genome assembly and annotation completeness with single-copy orthologs

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A framework for variation discovery and genotyping using next-generation DNA sequencing data

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Analysis of the genome sequence of the flowering plant Arabidopsis thaliana

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Canu: scalable and accurate long-read assembly via adaptive k -mer weighting and repeat separationPreprint

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Initial sequencing and comparative analysis of the mouse genome

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Defining protein variant functions using high-complexity mutagenesis libraries and enhanced mutant detection software ASMv1.0Preprint

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Chromosome genome assembly and whole genome sequencing of 110 individuals of Conogethes punctiferalis (Guenée)

Gao, B., Peng, Y., Jin, M., Zhang, L., Han, X., Wu, C., Yuan, H., Andongma, A. A., Zheng, F.-Q., Li, X., et al. (2023) · Scientific Data · doi:10.1038/s41597-023-02730-x · Cited by 12

Closing the gap: Solving complex medically relevant genes at scalePreprint

Mahmoud, M., Harting, J., Corbitt, H., Chen, X., Jhangiani, S. N., Doddapaneni, H., Meng, Q., Lambert, C. C., Zhang, S., Baybayan, P. A., et al. (2024) · medRxiv · doi:10.1101/2024.03.14.24304179 · Cited by 12

Chromosome-level genome assembly of the threatened resource plant Cinnamomum chago

Tao, L., Guo, S., Xiong, Z., Zhang, R., & Sun, W. (2024) · Scientific Data · doi:10.1038/s41597-024-03293-1 · Cited by 12

Characterizing tandem repeat complexities across long-read sequencing platforms with TREAT and otterPreprint

Tesi, N., Salazar, A., Zhang, Y., van der Lee, S. J., Hulsman, M., Knoop, L., Wijesekera, S., Křížová, J., Schneider, A.-F. E., Pennings, M., et al. (2024) · Genome Research · doi:10.1101/gr.279351.124 · Cited by 14

How Fragmented Is eDNA? A Case Study on Shark DNA in Tropical Reef Seawater

West, K. M., & Deagle, B. E. (2025) · Environmental DNA · doi:10.1002/edn3.70165 · Cited by 11

Genome-wide associations of structural variants with human traits through imputation from long-read assemblies

Bai, W.-Y., Liu, S., Duan, Z., Yang, J.-J., Chen, J., Hou, J., Wu, L., Li, N., Qi, T., & Yang, J. (2026) · Nature Genetics · doi:10.1038/s41588-026-02612-z · Cited by 12

Closing in on a complete human genome

Eisenstein, M. S. (2021) · Nature · doi:10.1038/d41586-021-00462-9 · Cited by 11

JC Polyomavirus Whole Genome Sequencing at the Single-Molecule Level Reveals Emerging Neurotropic Populations in Progressive Multifocal Leukoencephalopathy

L’Honneur, A.-S., da Fonseca, J. P., Cokelaer, T., & Rozenberg, F. (2021) · The Journal of Infectious Diseases · doi:10.1093/infdis/jiab639 · Cited by 11

Identification of four novel large deletions and complex variants in the α-globin locus in Chinese population

Bao, X., Wang, J., Qin, D., Yao, C., Liang, J., Liang, K., Zeng, Y., & Du, L. L. (2023) · Human Genomics · doi:10.1186/s40246-023-00486-4 · Cited by 11

Third generation sequencing transforms the way of the screening and diagnosis of thalassemia: a mini-review

Zhan, L., Gui, C., Wei, W., Liu, J., & Gui, B. (2023) · Frontiers in Pediatrics · doi:10.3389/fped.2023.1199609 · Cited by 11

Toward the functional interpretation of somatic structural variations: bulk- and single-cell approaches

Yi, D., Nam, J., & Jeong, H. (2023) · Briefings in Bioinformatics · doi:10.1093/bib/bbad297 · Cited by 11

Genomisches Neugeborenenscreening – Forschungsansätze, Herausforderungen und Chancen

Brennenstuhl, H., & Schaaf, C. P. (2023) · Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz · doi:10.1007/s00103-023-03777-2 · Cited by 12

Applications of advanced technologies for detecting genomic structural variation

Laufer, V. A., Glover, T. W., & Wilson, T. E. (2023) · Mutation Research/Reviews in Mutation Research · doi:10.1016/j.mrrev.2023.108475 · Cited by 10

Retrieval of long DNA reads from herbarium specimens

Quatela, A., Cangrén, P., Jafari, F., Michel, T., de Boer, H., & Oxelman, B. (2023) · AoB Plants · doi:10.1093/aobpla/plad074 · Cited by 13

Full-length isoform concatenation sequencing to resolve cancer transcriptome complexity

Wijeratne, S., Gonzalez, M. E. H., Roach, K., Miller, K. E., Schieffer, K. M., Fitch, J., Leonard, J. R., White, P., Kelly, B., Cottrell, C. E., et al. (2024) · BMC Genomics · doi:10.1186/s12864-024-10021-x · Cited by 11

Haplotype-resolved genome assembly and implementation of VitExpress, an open interactive transcriptomic platform for grapevine

Djari, A., Madignier, G., Valentin, O. D., Gillet, T., Frasse, P., Djouhri, A., Hu, G., Julliard, S., Liu, M., Zhang, Y., et al. (2024) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2403750121 · Cited by 10

Genome-wide detection of somatic mosaicism at short tandem repeats

Sehgal, A., Jam, H. Z., Shen, A., & Gymrek, M. (2024) · Bioinformatics · doi:10.1093/bioinformatics/btae485 · Cited by 11

Graphasing: phasing diploid genome assembly graphs with single-cell strand sequencing

Henglin, M., Ghareghani, M., Harvey, W. T., Porubskỳ, D., Koren, S., Eichler, E. E., Ebert, P., & Marschall, T. (2024) · Genome biology · doi:10.1186/s13059-024-03409-1 · Cited by 11

Application of third-generation sequencing technology in the genetic testing of thalassemia

Li, W., & Ye, Y. (2024) · Molecular Cytogenetics · doi:10.1186/s13039-024-00701-4 · Cited by 11

High clinical utility of long-read sequencing for precise diagnosis of congenital adrenal hyperplasia in 322 probands

Wang, Y., Zhu, G., Li, D., Pan, Y., Li, R., Zhou, T., Mao, A., Chen, L., Zhu, J., & Zhu, M. (2025) · Human Genomics · doi:10.1186/s40246-024-00696-4 · Cited by 12

Impacts of ribosomal RNA sequence variation on gene expression and phenotype

Welfer, G. A., Brady, R. A., Natchiar, S. K., Watson, Z. L., Rundlet, E. J., Alejo, J. L., Singh, A. P., Mishra, N. K., Altman, R. B., & Blanchard, S. C. (2025) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2023.0379 · Cited by 11

NanoMnT: an STR analysis tool for Oxford Nanopore sequencing data driven by a comprehensive analysis of error profile in STR regions

Park, G., An, H., Luo, H., & Park, J. (2025) · GigaScience · doi:10.1093/gigascience/giaf013 · Cited by 11

Elucidating the coordination of RNA processing using short-read and long-read RNA-sequencing methods

Alfonso-Gonzalez, C., & Hilgers, V. (2025) · Nature Reviews Molecular Cell Biology · doi:10.1038/s41580-025-00895-4 · Cited by 14

The contributions of Nettie Stevens to the field of sex chromosome biology

Carey, S. B., Akozbek, L. M., & Harkess, A. (2022) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2021.0215 · Cited by 11

Profiling the Genome-Wide Landscape of Short Tandem Repeats by Long-Read Sequencing

Liu, Z., Zhao, G., Xiao, Y., Zeng, S., Yuan, Y., Zhou, X. C., Fang, Z., He, R., Li, B., Zhao, Y., et al. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.810595 · Cited by 11

Identification of an integrase-independent pathway of retrotransposition

Li, F., Lee, M., Esnault, C., Wendover, K., Guo, Y., Atkins, P., Zaratiegui, M., & Levin, H. L. (2022) · Science Advances · doi:10.1126/sciadv.abm9390 · Cited by 11

Dissection of Besnoitia besnoiti intermediate host life cycle stages: From morphology to gene expression

Ramakrishnan, C., Krishnan, A., Francisco, S., Schmid, M. W., Russo, G., Leitão, A., Hemphill, A. F., Soldati‐Favre, D., & Hehl, A. B. (2022) · PLoS Pathogens · doi:10.1371/journal.ppat.1010955 · Cited by 11

High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders

Lecoquierre, F., Quenez, O., Fourneaux, S., Coutant, S., Vézain, M., Rolain, M., Drouot, N., Boland, A., Olaso, R., Meyer, V., et al. (2023) · Human Genetics · doi:10.1007/s00439-023-02553-1 · Cited by 10

Benchmarking long-read genome sequence alignment tools for human genomics applications

LoTempio, J. E., Délot, E. C., & Vilain, E. J. N. (2023) · PeerJ · doi:10.7717/peerj.16515 · Cited by 12

The History of Gene Hunting in Hereditary Spinocerebellar Degeneration: Lessons From the Past and Future Perspectives

Yahia, A., & Stévanin, G. (2021) · Frontiers in Genetics · doi:10.3389/fgene.2021.638730 · Cited by 11

PacRAT: a program to improve barcode-variant mapping from PacBio long reads using multiple sequence alignment

Yeh, C.-L. C., Amorosi, C. J., Showman, S., & Dunham, M. J. (2022) · Bioinformatics · doi:10.1093/bioinformatics/btac165 · Cited by 11

Genome sequence assembly algorithms and misassembly identification methods

Meng, Y., Lei, Y., Gao, J., Liu, Y., Ma, E., Ding, Y., Bian, Y., Zu, H., Dong, Y., & Zhu, X. M. (2022) · Molecular Biology Reports · doi:10.1007/s11033-022-07919-8 · Cited by 12

The design and construction of reference pangenome graphsPreprint

Li, H., Feng, X., & Chu, C. (2020) · arXiv (Cornell University) · doi:10.48550/arxiv.2003.06079 · Cited by 16

Accelerating Minimap2 for accurate long read alignment on GPUsPreprint

Sadasivan, H., Maric, M., Dawson, E. T., Iyer, V., Israeli, J., & Narayanasamy, S. (2022) · Research Square · doi:10.21203/rs.3.rs-1523696/v2 · Cited by 11

Chromosome-level haplotype-resolved genome assembly for Takifugu ocellatus using PacBio and Hi-C technologies

Zeng, Q., Zhou, Z., He, Q., Li, L., Pu, F., Yan, M., & Xu, P. (2023) · Scientific Data · doi:10.1038/s41597-023-01937-2 · Cited by 11

Small polymorphisms are a source of ancestral bias in structural variant breakpoint placementPreprint

Audano, P. A., & Beck, C. R. (2024) · Genome Research · doi:10.1101/gr.278203.123 · Cited by 13

Telomere-to-telomere assembly by preserving contained readsPreprint

Kamath, S. S., Bindra, M., Pal, D., & Jain, C. (2024) · Genome Research · doi:10.1101/gr.279311.124 · Cited by 10

CGC1, a new reference genome for Caenorhabditis elegansPreprint

Ichikawa, K., Shoura, M. J., Artiles, K. L., Jeong, D., Owa, C., Kobayashi, H., Suzuki, Y., Kanamori, M., Toyoshima, Y., Iino, Y., et al. (2025) · Genome Research · doi:10.1101/gr.280274.124 · Cited by 12

Phospho-RNA sequencing with circAID-p-seq

Piano, A. D., Kecman, T., Schmid, M., Barbieri, R., Brocchieri, L., Tornaletti, S., Firrito, C., Minati, L., Bernabò, P., Signoria, I., et al. (2021) · Nucleic Acids Research · doi:10.1093/nar/gkab1158 · Cited by 10

The evolution of gene regulation on sex chromosomes

Shaw, D. E., & White, M. A. (2022) · Trends in Genetics · doi:10.1016/j.tig.2022.04.004 · Cited by 10

Chromosome-Scale, Haplotype-Resolved Genome Assembly of Non-Sex-Reversal Females of Swamp Eel Using High-Fidelity Long Reads and Hi-C Data

Tian, H., Hu, Q., Lu, H.-Y., & Li, Z. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.903185 · Cited by 10

Evaluation of Intracellular Gene Transfers from Plastome to Nuclear Genome across Progressively Improved Assemblies for Arabidopsis thaliana and Oryza sativa

Wang, H., Liao, X., Tembrock, L. R., Yang, Z., & Wu, Z. (2022) · Genes · doi:10.3390/genes13091620 · Cited by 11

Long-Read Nanopore Sequencing of RPGR ORF15 is Enhanced Following DNase I Treatment of MinION Flow Cells

Yahya, S., Watson, C. M., Carr, I., McKibbin, M., Crinnion, L. A., Taylor, M., Bonin, H., Fletcher, T. A., El‐Asrag, M. E., Ali, M., et al. (2023) · Molecular Diagnosis & Therapy · doi:10.1007/s40291-023-00656-z · Cited by 10

High quality de novo genome assembly of the non-conventional yeast Kazachstania bulderi describes a potential low pH production host for biorefineries

Balarezo-Cisneros, L. N., Timouma, S., Hanak, A., Currin, A., Valle, F., & Delneri, D. (2023) · Communications Biology · doi:10.1038/s42003-023-05285-0 · Cited by 12

Phased genome assemblies reveal haplotype‐specific genetic load in the critically endangered Chinese Bahaba (Teleostei, Sciaenidae)

Cui, R., Wu, J., Yan, K., Luo, S., Hu, Y., Wei, F., Lu, B., & Wang, J. (2024) · Molecular Ecology · doi:10.1111/mec.17250 · Cited by 11

Applications of genome sequencing as a single platform for clinical constitutional genetic testing

Yang, Y., del Gaudio, D., Santani, A., & Scott, S. A. (2024) · Genetics in Medicine Open · doi:10.1016/j.gimo.2024.101840 · Cited by 10

Haplotype-resolved assembly of diploid and polyploid genomes using quantum computing

Chen, Y., Huang, J.-H., Sun, Y., Zhang, Y., Li, Y., & Xu, X. (2024) · Cell Reports Methods · doi:10.1016/j.crmeth.2024.100754 · Cited by 10

Long-read sequencing and optical mapping generates near T2T assemblies that resolves a centromeric translocation

de Boer, E. T. B., Ameur, A., Bunikis, I., Ek, M., Stattin, E., Feuk, L., Eisfeldt, J., & Lindstrand, A. (2024) · Scientific Reports · doi:10.1038/s41598-024-59683-3 · Cited by 12

Genomic architecture and sex chromosome systems of commercially important fish species in Asia – Current status, knowledge gaps and future prospects

Taslima, K., Kikuchi, K., & Hosoya, S. (2024) · Reviews in Aquaculture · doi:10.1111/raq.12939 · Cited by 10

Structural variation discovery in wheat using PacBio high‐fidelity sequencing

Zhang, Z., Zhang, J., Kang, L., Qiu, X., Xu, S., Xu, J. Q., Guo, Y., Niu, Z., Niu, B., Bi, A., et al. (2024) · The Plant Journal · doi:10.1111/tpj.17011 · Cited by 11

Comprehensive assessment of long-read sequencing platforms and calling algorithms for detection of copy number variation

Yuan, N., & Jia, P. (2024) · Briefings in Bioinformatics · doi:10.1093/bib/bbae441 · Cited by 13

RNA in axons, dendrites, synapses and beyond

Taylor, R., & Nikolaou, N. (2024) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2024.1397378 · Cited by 9

Identification of age-associated microbial changes via long-read 16S sequencing

Toh, K. Y., Toh, T. S., Chua, K. P., Rajakumar, P. D., Lee, J. W. J., & Chong, C. W. (2024) · Gut Pathogens · doi:10.1186/s13099-024-00650-8 · Cited by 9

Programmable broad-spectrum resistance to bacterial blight using targeted insertion in rice

Zhang, X., Song, M., Wang, Y., Yao, Q., Shen, R., Tian, Y., Lu, Y., & Zhu, J. (2024) · Cell Discovery · doi:10.1038/s41421-024-00714-8 · Cited by 10

Characterization of the sex determining region and development of a molecular sex identification method in a Salangid fish

Yang, H., Li, Y., Xing, T., & Liu, J. (2024) · BMC Genomics · doi:10.1186/s12864-024-11047-x · Cited by 10

A chromosome-level reference genome facilitates the discovery of clubroot-resistant gene Crr5 in Chinese cabbage

Yang, S., Wang, X., Wang, Z., Zhang, W., Su, H., Wei, X., Zhao, Y., Wang, Z., Zhang, X., Guo, L., et al. (2024) · Horticulture Research · doi:10.1093/hr/uhae338 · Cited by 12

Navigating triplet repeats sequencing: concepts, methodological challenges and perspective for Huntington’s disease

Maestri, S., Scalzo, D., Damaggio, G., Zobel, M., Besusso, D., & Cattaneo, E. F. (2024) · Nucleic Acids Research · doi:10.1093/nar/gkae1155 · Cited by 14

Development of Genomic SSR for the Subtropical Hardwood Tree Dalbergia hupeana and Assessment of Their Transferability to Other Related Species

Li, C., Zheng, Y., Liu, Y., Lin, F., & Huang, P. (2021) · Forests · doi:10.3390/f12060804 · Cited by 10

Construction and characterization of a de novo draft genome of garden cress (Lepidium sativum L.)

Patat, A. S., Şen, F., Erdoğdu, B. S., Uncu, A. T., & Uncu, A. Ö. (2022) · Functional & Integrative Genomics · doi:10.1007/s10142-022-00866-4 · Cited by 10

Long‐read HiFi sequencing of NUDT15 : Phased full‐gene haplotyping and pharmacogenomic allele discovery

Scott, E. R., Yang, Y., Botton, M. R., Seki, Y., Hoshitsuki, K., Harting, J., Baybayan, P. A., Cody, N. A. L., Nicoletti, P., Moriyama, T., et al. (2022) · Human Mutation · doi:10.1002/humu.24457 · Cited by 10

Pacific Biosciences Fusion and Long Isoform Pipeline for Cancer Transcriptome–Based Resolution of Isoform Complexity

Miller, A. R., Wijeratne, S., McGrath, S. D., Schieffer, K. M., Miller, K. E., Lee, K., Mathew, M., LaHaye, S., Fitch, J., Kelly, B., et al. (2022) · Journal of Molecular Diagnostics · doi:10.1016/j.jmoldx.2022.09.003 · Cited by 10

Long-read assembly of major histocompatibility complex and killer cell immunoglobulin-like receptor genome regions in cynomolgus macaque

Hu, Q., Huang, X., Jin, Y., Zhang, R., Zhao, A., Wang, Y., Zhou, C., Liu, W., Liu, X., Li, C., et al. (2022) · Biology Direct · doi:10.1186/s13062-022-00350-w · Cited by 9

Application of third-generation sequencing for genetic testing of thalassemia in Guizhou Province, Southwest China

Wu, J., Xie, D., Wang, L., Kuang, Y., Luo, S., Ren, L., Li, D., Mao, A., Li, J., Chen, L., et al. (2022) · Hematology · doi:10.1080/16078454.2022.2156720 · Cited by 10

PacBio single-molecule long-read sequencing provides new insights into the complexity of full-length transcripts in oriental river prawn, macrobrachium nipponense

Mou, C.-Y., Li, Q., Huang, Z., Ke, H., Zhao, H., Zhao, Z., Duan, Y., Li, H., Xiao, Y., Qian, Z.-M., et al. (2023) · BMC Genomics · doi:10.1186/s12864-023-09442-x · Cited by 11

Long-Read Sequencing in Blood Group Genetics

Thun, G. A., Gueuning, M., & Mattle‐Greminger, M. P. (2023) · Transfusion Medicine and Hemotherapy · doi:10.1159/000530652 · Cited by 10

6mA-Sniper: Quantifying 6mA sites in eukaryotes at single-nucleotide resolution

Zhang, J., Peng, Q., Ma, C., Wang, J., Xiao, C., Li, T., Liu, X., Zhou, L., Xu, X., Zhou, W., et al. (2023) · Science Advances · doi:10.1126/sciadv.adh7912 · Cited by 10

Representing true plant genomes: haplotype-resolved hybrid pepper genome with trio-binning

Delorean, E., Youngblood, R. C., Simpson, S., Schoonmaker, A. N., Scheffler, B. E., Rutter, W. B., & Hulse‐Kemp, A. M. (2023) · Frontiers in Plant Science · doi:10.3389/fpls.2023.1184112 · Cited by 11

Functional genomics and small molecules in mitochondrial neurodevelopmental disorders

Calame, D. G., & Emrick, L. (2024) · Neurotherapeutics · doi:10.1016/j.neurot.2024.e00316 · Cited by 11

Genome-wide survey of tandem repeats by nanopore sequencing shows that disease-associated repeats are more polymorphic in the general population

Mitsuhashi, S., Frith, M. C., & Matsumoto, N. (2021) · BMC Medical Genomics · doi:10.1186/s12920-020-00853-3 · Cited by 9

Breaking through the unknowns of the human reference genome

Miga, K. H. (2021) · Nature · doi:10.1038/d41586-021-00293-8 · Cited by 10

Personalized genome structure via single gamete sequencing

Lyu, R., Tsui, V., McCarthy, D. J., & Crismani, W. (2021) · Genome biology · doi:10.1186/s13059-021-02327-w · Cited by 12

Identification of Candidate Gene-Based Markers for Girth Growth in Rubber Trees

Bhusudsawang, G., Rattanawong, R., Phumichai, T., Pootakham, W., Tangphatsornruang, S., & Ukoskit, K. (2021) · Plants · doi:10.3390/plants10071440 · Cited by 10

A large‐scale metagenomic study for enzyme profiles using the focused identification of the NGS‐based definitive enzyme research (FINDER) strategy

Sung, J., Lee, Y., Cho, Y., Shin, M., Lee, S., Lee, H., Koh, H., Bae, J., Shin, J., Kim, H. J., et al. (2021) · Biotechnology and Bioengineering · doi:10.1002/bit.27904 · Cited by 10

Unlocking the Complexity of Mitochondrial DNA: A Key to Understanding Neurodegenerative Disease Caused by Injury

Singh, L. N., Kao, S.-H., & Wallace, D. C. (2021) · Cells · doi:10.3390/cells10123460 · Cited by 10

Current technical advancements in plant epitranscriptomic studies

Xie, Y., Chan, L., Cheung, M.-Y., Li, M., & Lam, H. (2023) · The Plant Genome · doi:10.1002/tpg2.20316 · Cited by 10

Toward Visualizing Genomic DNA Using Electron Microscopy via DNA Metallization

Jin, X., Kannappan, S., Hapsari, N. D., Jin, Y., Kim, K. K., Lee, J. H., & Jo, K. (2023) · Small Structures · doi:10.1002/sstr.202200361 · Cited by 11

Impact of Nucleic Acid Sequencing on Viroid Biology

Adkar‐Purushothama, C. R., & Perreault, J. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21155532 · Cited by 13

Analysis of HLA-G long-read genomic sequences in mother–offspring pairs with preeclampsia

Nishizawa, A., Kumada, K., Tateno, K., Wagata, M., Saito, S., Katsuoka, F., Mizuno, S., Ogishima, S., Yamamoto, M. P., Yasuda, J., et al. (2020) · Scientific Reports · doi:10.1038/s41598-020-77081-3 · Cited by 10

Genomic sequence characteristics and the empiric accuracy of short-read sequencingPreprint

Marin, M. G., Vargas, R., Harris, M., Jeffrey, B. M., Epperson, L. E., Durbin, D., Strong, M., Salfinger, M., Iqbal, Z., Akhundova, İ., et al. (2021) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2021.04.08.438862 · Cited by 10

A direct experimental test of Ohno’s hypothesis

Mihajlovic, L., Iyengar, B. R., Baier, F., Barbier, I., Iwaszkiewicz, J., Zoete, V., Wagner, A., & Schaerli, Y. (2024) · eLife · doi:10.7554/elife.97216.3 · Cited by 17

A Robust Benchmark for Detecting Low-Frequency Variants in the HG002 Genome in a Bottle NIST Reference MaterialPreprint

Daniels, C. A., Abdulkadir, A., Cleveland, M. H., McDaniel, J., Jáspez, D., Rubio‐Rodríguez, L. A., Muñoz‐Barrera, A., Lorenzo-Salazar, J. M., Flores, C., Yoo, B., et al. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.12.02.625685 · Cited by 10

StarPhase: Comprehensive Phase-Aware Pharmacogenomic Diplotyper for Long-Read Sequencing DataPreprint

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