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Strain S has a single non-synonymous nucleotide polymorphism in RCA1 yielding a truncated Rca1Y110* variant lacking the essential bZIP region.
“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]
All 198 attempted experimental validations of de novo mutations in the novel genes confirmed them as de novo mutations.
“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]
Variant sequences were verified by next-generation sequencing and manual inspection.
“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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- 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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