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Performance Evaluation of Three DNA Sample Tracking Tools in a Whole Exome Sequencing Workflow.
- Published in:
- Molecular Diagnosis & Therapy, 2022, v. 26, n. 4, p. 411, doi. 10.1007/s40291-022-00585-3
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- Publication type:
- Article
Analysing 454 amplicon resequencingexperiments using the modular and databaseoriented Variant Identification Pipeline.
- Published in:
- BMC Bioinformatics, 2010, v. 11, p. 269, doi. 10.1186/1471-2105-11-269
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- Publication type:
- Article
Practical Tools to Implement Massive Parallel Pyrosequencing of PCR Products in Next Generation Molecular Diagnostics.
- Published in:
- PLoS ONE, 2011, v. 6, n. 9, p. 1, doi. 10.1371/journal.pone.0025531
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- Publication type:
- Article
Increased chromosomal radiosensitivity in asymptomatic carriers of a heterozygous BRCA1 mutation.
- Published in:
- 2016
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- Publication type:
- journal article
Comparison of mRNA Splicing Assay Protocols across Multiple Laboratories: Recommendations for Best Practice in Standardized Clinical Testing.
- Published in:
- Clinical Chemistry, 2014, v. 60, n. 2, p. 341, doi. 10.1373/clinchem.2013.210658
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- Publication type:
- Article
Analysis of the Novel Fanconi Anemia Gene SLX4/ FANCP in Familial Breast Cancer Cases.
- Published in:
- Human Mutation, 2013, v. 34, n. 1, p. 70, doi. 10.1002/humu.22206
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- Publication type:
- Article
Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes.
- Published in:
- Human Mutation, 2011, v. 32, n. 9, p. 1053, doi. 10.1002/humu.21525
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- Publication type:
- Article
Massive parallel amplicon sequencing of the breast cancer genes BRCA1 and BRCA2: opportunities, challenges, and limitations.
- Published in:
- Human Mutation, 2011, v. 32, n. 3, p. 335, doi. 10.1002/humu.21428
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- Publication type:
- Article
Analysis of chromosomal radiosensitivity of healthy BRCA2 mutation carriers and non-carriers in BRCA families with the G2 micronucleus assay.
- Published in:
- Oncology Reports, 2017, v. 37, n. 3, p. 1379, doi. 10.3892/or.2017.5407
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- Publication type:
- Article