Found: 13
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Assessing structural variation in a personal genome--towards a human reference diploid genome.
- Published in:
- BMC Genomics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12864-015-1479-3
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- Publication type:
- Article
Assessing structural variation in a personal genome—towards a human reference diploid genome.
- Published in:
- BMC Genomics, 2015, v. 16, n. 1, p. 286, doi. 10.1186/s12864-015-1479-3
- By:
- Publication type:
- Article
The Importance of Being Cis: Evolution of Orthologous Fish and Mammalian Enhancer Activity.
- Published in:
- Molecular Biology & Evolution, 2010, v. 27, n. 10, p. 2322, doi. 10.1093/molbev/msq128
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- Publication type:
- Article
Standard operating procedure for curation and clinical interpretation of variants in cancer.
- Published in:
- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0687-x
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- Publication type:
- Article
Developing a disease-specific annotation protocol for VHL gene curation using Hypothes.is.
- Published in:
- Database: The Journal of Biological Databases & Curation, 2023, v. 2023, p. 1, doi. 10.1093/database/baac109
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- Publication type:
- Article
Transcriptional Enhancers in Protein-Coding Exons of Vertebrate Developmental Genes.
- Published in:
- PLoS ONE, 2012, v. 7, n. 5, p. 1, doi. 10.1371/journal.pone.0035202
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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
Somatic cancer variant curation and harmonization through consensus minimum variant level data.
- Published in:
- Genome Medicine, 2016, v. 8, p. 1, doi. 10.1186/s13073-016-0367-z
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- Publication type:
- Article
cneViewer: a database of conserved non-coding elements for studies of tissue-specific gene regulation.
- Published in:
- Bioinformatics, 2008, v. 24, n. 20, p. 2418, doi. 10.1093/bioinformatics/btn443
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- Publication type:
- Article
SV-STAT accurately detects structural variation via alignment to reference-based assemblies.
- Published in:
- Source Code for Biology & Medicine, 2016, v. 11, p. 1, doi. 10.1186/s13029-016-0051-0
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- Publication type:
- Article
Adapting crowdsourced clinical cancer curation in CIViC to the ClinGen minimum variant level data community‐driven standards.
- Published in:
- Human Mutation, 2018, v. 39, n. 11, p. 1721, doi. 10.1002/humu.23651
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- Publication type:
- Article
The clinical imperative for inclusivity: Race, ethnicity, and ancestry (REA) in genomics.
- Published in:
- Human Mutation, 2018, v. 39, n. 11, p. 1713, doi. 10.1002/humu.23644
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- Publication type:
- Article
Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genes.
- Published in:
- Human Mutation, 2018, v. 39, n. 11, p. 1542, doi. 10.1002/humu.23640
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- Publication type:
- Article