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“Indeed, using IGV tool (version 2.16.2)27, we discovered a single non-synonymous nucleotide polymorphism RCA1, yielding a truncated Rca1Y110* variant lacking a the essential bZIP region.”
From Candida auris skin tropism and antifungal resistance are mediated by carbonic anhydrase Nce103 (2025) · cites this paper as [27]
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“Aligned and sorted bam files were loaded into IGV to verify APOE genotype (Robinson et al., 2011).”
From Cholesterol and matrisome pathways dysregulated in astrocytes and microglia (2022) · cites this paper as Robinson et al., 2011
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“all these DNMs were inspected in IGV10 and, of 198 for which experimental validation was attempted, all were confirmed as DNMs.”
From Evidence for 28 genetic disorders discovered by combining healthcare and research data (2020) · cites this paper as [10]
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“To verify the sequences of variants, next-generation sequencing libraries were prepared according to a low-volume Nextera sequencing protocol 43 and sequenced on the Illumina Miseq platform (single-end mode with 50 bp R1).”
From Striking antibody evasion manifested by the Omicron variant of SARS-CoV-2 (2022) · cites this paper as [46]
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SOX9 reprograms endothelial cells by altering the chromatin landscape
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“Read counting was done using HTseq (95) in the union mode and the genomic annotation from C. auris B8841 (settings -f bam -r pos -t gene -i ID), and read coverage profiles were visualized using the Integrative Genomics Viewer (IGV) (96).”
MethodThe Genomic Natural History of the Aurochs
Rossi, C., Sinding, M.-H. S., Mullin, V. E., Scheu, A., Erven, J. A. M., Verdugo, M. P., Daly, K. G., Ciucani, M. M., Mattiangeli, V., Teasdale, M. D., et al. (2024) · Nature · doi:10.1038/s41586-024-08112-6 · Cited by 32
Cellular reprogramming in vivo initiated by SOX4 pioneer factor activity
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DeNovoCNN: a deep learning approach to de novo variant calling in next generation sequencing data
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Mitochondrial Sequence Variation in African-American Primary Open-Angle Glaucoma Patients
Collins, D. W., Gudiseva, H. V., Trachtman, B. T., Jerrehian, M., Gorry, T., Merritt III, W. T., Rhodes, A. L., Sankar, P. S., Regina, M., Miller-Ellis, E., et al. (2013) · PLoS ONE · doi:10.1371/journal.pone.0076627 · Cited by 27
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Arastehfar, A., Daneshnia, F., Hovhannisyan, H., Fuentes, D., Cabrera, N., Quinteros, C., Ilkit, M., Ünal, N., Hilmioğlu-Polat, S., Jabeen, K., et al. (2023) · mBio · doi:10.1128/mbio.01180-23 · Cited by 27
“Additionally, we manually filtered out likely artifactual mutations through visual inspection using the integrative genomics viewer (58).”
MethodChen, L., Cao, W., Aita, R., Aldea, D., Flores, J., Gao, N., Bonder, E. M., Ellison, C. E., & Verzi, M. P. (2021) · Cell Reports · doi:10.1016/j.celrep.2020.108679 · Cited by 27
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Garrigues, S., Peng, M., Kun, R. S., & de Vries, R. P. (2023) · mBio · doi:10.1128/mbio.00668-23 · Cited by 22
The AAV2.7m8 capsid packages a higher degree of heterogeneous vector genomes than AAV2
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“Aligned reads were visualized with the Integrated Genomics Viewer (IGV) tool version 2.14.0 [39] with soft clipping on.”
MethodInfluentialThe Wild West of spike-in normalization
Patel, L. A., Cao, Y., Mendenhall, E. M., Benner, C., & Goren, A. (2024) · Nature Biotechnology · doi:10.1038/s41587-024-02377-y · Cited by 20
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Genotyping of Circulating Free DNA Enables Monitoring of Tumor Dynamics in Synovial Sarcomas
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Candida auris skin tropism and antifungal resistance are mediated by carbonic anhydrase Nce103
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TEG001 Insert Integrity from Vector Producer Cells until Medicinal Product
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FURIN regulates cytotoxic T-lymphocyte effector function and memory cell transition in mice
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“Visualization snapshots were obtained using Integrative Genomics Viewer 82 (IGV, v.2.19.1).”
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TDP1 splice-site mutation causes HAP1 cell hypersensitivity to topoisomerase I inhibition
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Metadata
- Authors
- Robinson, J. T., Thorvaldsdóttir, H., Winckler, W., Guttman, M., Lander, E. S., Getz, G., & Mesirov, J. P.
- Affiliations
- Broad Institute (US)
- Corresponding author
- Robinson, James T
- Mesirov, Jill P
- Venue
- Nature Biotechnology
- Published
- 2011-01
- Volume
- 29
- Issue
- 1
- Pages
- 24-26
- ISSN
- 0733-222X (ISSN-L)
- 1087-0156
- 1546-1696
- PMC
- PMC3346182
- OpenAlex
- W2021341670
- Cited by
- 15,390
- References
- 14
- Citations by year
- 2026: 1154 · 2025: 1531 · 2024: 1711 · 2023: 1498 · 2022: 1515 · 2021: 1605 · 2020: 1370 · 2019: 1013 · 2018: 915 · 2017: 804 · 2016: 694 · 2015: 503 · 2014: 398 · 2013: 360 · 2012: 226
- FWCI
- 137.77
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Biotechnology (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- DSpace@MIT (Massachusetts Institute of Technology) (submittedVersion, cc-by-nc-sa)
- CaltechAUTHORS (California Institute of Technology) (submittedVersion)
- PMC
- Funders
- National Human Genome Research Institute (U54HG003067)
- National Cancer Institute (R21CA135827)
- National Institute of General Medical Sciences (R01GM074024)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Phylogenetic Studies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA Research and Splicing
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Chromatin Dynamics
- Keywords
- genome browser, genome visualization, data visualization tools
- MeSH terms
- Chromosome Mapping, Computer Graphics, Glioblastoma, Humans, Neoplasms, Online Systems, Software, Information Storage and Retrieval, Gene Dosage, Computational Biology, Internet, Oligonucleotide Array Sequence Analysis, Polymorphism, Single Nucleotide, Gene Expression Profiling, Genomics
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