The DOI matches its Crossref record; 14 of the 14 references it cites were found in a registry or an index.
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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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Citations
Cites
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
Comprehensive genomic characterization defines human glioblastoma genes and core pathways
The Cancer Genome Atlas Research Network (2008) · Nature · doi:10.1038/nature07385 · Cited by 7,735
Verhaak, R. G. W., Hoadley, K. A., Purdom, E., Wang, V., Qi, Y., Wilkerson, M. D., Miller, C. R., Ding, L., Golub, T., Mesirov, J. P., et al. (2010) · Cancer Cell · doi:10.1016/j.ccr.2009.12.020 · Cited by 7,575
Self-citationChromatin signature reveals over a thousand highly conserved large non-coding RNAs in mammals
Guttman, M., Amit, I., Garber, M., French, C., Lin, M. F., Feldser, D., Huarte, M., Zuk, O., Carey, B. W., Cassady, J. P., et al. (2009) · Nature · doi:10.1038/nature07672 · Cited by 4,098
Self-citationArtemis: sequence visualization and annotation
Rutherford, K. M., Parkhill, J., Crook, J., Horsnell, T., Rice, P., Rajandream, M., & Barrell, B. (2000) · Bioinform. · doi:10.1093/bioinformatics/16.10.944 · Cited by 3,295
The ENCODE (ENCyclopedia Of DNA Elements) Project
(2004) · Science · doi:10.1126/science.1105136 · Cited by 2,390
Systematic determination of patterns of gene expression during Drosophila embryogenesis
Tomančák, P., Beaton, A., Weiszmann, R., Kwan, E., Shu, S., Lewis, S., Richards, S., Ashburner, M., Hartenstein, V., Celniker, S., et al. (2002) · Genome biology · doi:10.1186/gb-2002-3-12-research0088 · Cited by 725
Tablet-next generation sequence assembly visualization.
Milne, I., Bayer, M., Cardle, L., Shaw, P., Stephen, G., Wright, F., & Marshall, D. (2010) · Bioinformatics · doi:10.1093/bioinformatics/btp666 · Cited by 666
Nicol, J. W., Helt, G. A., Blanchard, S. G., Raja, A. N., & Loraine, A. E. (2009) · Bioinformatics · doi:10.1093/bioinformatics/btp472 · Cited by 623
Integrative analysis of the melanoma transcriptome
Berger, M. F., Levin, J. Z., Vijayendran, K., Sivachenko, A., Adiconis, X., Maguire, J., Johnson, L. A., Robinson, J., Verhaak, R. G., Sougnez, C., et al. (2010) · Genome Research · doi:10.1101/gr.103697.109 · Cited by 305
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Cerami, E., Gao, J., Dogrusoz, U., Gross, B. E., Sumer, S. O., Aksoy, B. A., Jacobsen, A., Byrne, C. J., Heuer, M. L., Larsson, E., et al. (2012) · Cancer Discovery · doi:10.1158/2159-8290.cd-12-0095 · Cited by 17,455
Integrative Analysis of Complex Cancer Genomics and Clinical Profiles Using the cBioPortal
Gao, J., Aksoy, B. A., Dogrusoz, U., Dresdner, G., Gross, B., Sumer, S. O., Sun, Y., Jacobsen, A., Sinha, R., Larsson, E., et al. (2013) · Science Signaling · doi:10.1126/scisignal.2004088 · Cited by 15,160
Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration
Thorvaldsdottir, H., Robinson, J. T., & Mesirov, J. P. (2013) · Briefings in Bioinformatics · doi:10.1093/bib/bbs017 · Cited by 9,049
Self-citationMutational landscape determines sensitivity to PD-1 blockade in non–small cell lung cancer
Rizvi, N. A., Hellmann, M. D., Snyder, A., Kvistborg, P., Makarov, V., Havel, J. J., Lee, W., Yuan, J., Wong, P., Ho, T. S., et al. (2015) · Science · doi:10.1126/science.aaa1348 · Cited by 7,802
A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
Renton, A. E., Majounie, E., Waite, A., Simón-Sánchez, J., Rollinson, S., Gibbs, J. R., Schymick, J. C., Laaksovirta, H., van Swieten, J. C., Myllykangas, L., et al. (2011) · Neuron · doi:10.1016/j.neuron.2011.09.010 · Cited by 4,409
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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