Found: 14
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Chromothripsis is a common mechanism driving genomic rearrangements in primary and metastatic colorectal cancer.
- Published in:
- Genome Biology, 2011, v. 12, n. 10, p. 1, doi. 10.1186/gb-2011-12-10-r103
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- Publication type:
- Article
Mapping and phasing of structural variation in patient genomes using nanopore sequencing.
- Published in:
- Nature Communications, 2017, v. 8, n. 1, p. 1, doi. 10.1038/s41467-017-01343-4
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- Publication type:
- Article
A high-quality human reference panel reveals the complexity and distribution of genomic structural variants.
- Published in:
- Nature Communications, 2016, v. 7, n. 10, p. 12989, doi. 10.1038/ncomms12989
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- Publication type:
- Article
Optimizing Nanopore sequencing-based detection of structural variants enables individualized circulating tumor DNA-based disease monitoring in cancer patients.
- Published in:
- Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00899-7
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- Publication type:
- Article
Discovery of variants unmasked by hemizygous deletions.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 7, p. 748, doi. 10.1038/ejhg.2011.263
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- Publication type:
- Article
Genome-wide patterns and properties of de novo mutations in humans.
- Published in:
- Nature Genetics, 2015, v. 47, n. 7, p. 822, doi. 10.1038/ng.3292
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- Publication type:
- Article
Dominant missense mutations in ABCC9 cause Cantú syndrome.
- Published in:
- Nature Genetics, 2012, v. 44, n. 7, p. 793, doi. 10.1038/ng.2324
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- Publication type:
- Article
Micronuclei-based model system reveals functional consequences of chromothripsis in human cells.
- Published in:
- eLife, 2019, p. 1, doi. 10.7554/eLife.50292
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- Publication type:
- Article
Multi-contact 4C: long-molecule sequencing of complex proximity ligation products to uncover local cooperative and competitive chromatin topologies.
- Published in:
- Nature Protocols, 2020, v. 15, n. 2, p. 364, doi. 10.1038/s41596-019-0242-7
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- Publication type:
- Article
CRISPR‐Cas9 enrichment, a new strategy in microbial metagenomics to investigate complex genomic regions: The case of an environmental integron.
- Published in:
- Molecular Ecology Resources, 2023, v. 23, n. 6, p. 1288, doi. 10.1111/1755-0998.13798
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- Publication type:
- Article
Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease.
- Published in:
- 2016
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- Publication type:
- journal article
Author Correction: Accurate detection of circulating tumor DNA using nanopore consensus sequencing.
- Published in:
- 2023
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- Publication type:
- Correction Notice
Accurate detection of circulating tumor DNA using nanopore consensus sequencing.
- Published in:
- NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00272-y
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- Publication type:
- Article
Partner independent fusion gene detection by multiplexed CRISPR-Cas9 enrichment and long read nanopore sequencing.
- Published in:
- Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-16641-7
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- Publication type:
- Article