Quantitative Analysis of BRCA1 and BRCA2 Germline Splicing Variants Using a Novel RNA-Massively Parallel Sequencing Assay
出版年份 2018 全文链接
标题
Quantitative Analysis of BRCA1 and BRCA2 Germline Splicing Variants Using a Novel RNA-Massively Parallel Sequencing Assay
作者
关键词
-
出版物
Frontiers in Oncology
Volume 8, Issue -, Pages -
出版商
Frontiers Media SA
发表日期
2018-07-27
DOI
10.3389/fonc.2018.00286
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- The Expanding Landscape of Alternative Splicing Variation in Human Populations
- (2018) Eddie Park et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Clinical sequencing: From raw data to diagnosis with lifetime value
- (2018) S.M. Caspar et al. CLINICAL GENETICS
- The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity
- (2018) Mara Colombo et al. HUMAN MUTATION
- Gaps in Incorporating Germline Genetic Testing Into Treatment Decision-Making for Early-Stage Breast Cancer
- (2017) Allison W. Kurian et al. JOURNAL OF CLINICAL ONCOLOGY
- Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18
- (2017) Eugenia Fraile-Bethencourt et al. PLoS Genetics
- The dark matter of the cancer genome: aberrations in regulatory elements, untranslated regions, splice sites, non‐coding RNA and synonymous mutations
- (2016) Sven Diederichs et al. EMBO Molecular Medicine
- Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms
- (2016) Miguel de la Hoya et al. HUMAN MOLECULAR GENETICS
- The Clinical Utility of Next Generation Sequencing Results in a Community-Based Hereditary Cancer Risk Program
- (2016) A. E. Bunnell et al. Journal of Genetic Counseling
- Naturally occurringBRCA2alternative mRNA splicing events in clinically relevant samples
- (2016) James D Fackenthal et al. JOURNAL OF MEDICAL GENETICS
- Coming of age: ten years of next-generation sequencing technologies
- (2016) Sara Goodwin et al. NATURE REVIEWS GENETICS
- Quantitative visualization of alternative exon expression from RNA-seq data
- (2015) Yarden Katz et al. BIOINFORMATICS
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- Functional Classification ofBRCA2DNA Variants by Splicing Assays in a Large Minigene with 9 Exons
- (2015) Alberto Acedo et al. HUMAN MUTATION
- Comparison of risk management strategies between women testing positive for a BRCA variant of unknown significance and women with known BRCA deleterious mutations
- (2014) Christine Garcia et al. GENETICS IN MEDICINE
- Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients
- (2014) Holly LaDuca et al. GENETICS IN MEDICINE
- Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium
- (2014) Mara Colombo et al. HUMAN MOLECULAR GENETICS
- Regulation of nonsense-mediated mRNA decay: Implications for physiology and disease
- (2013) Rachid Karam et al. Biochimica et Biophysica Acta-Gene Regulatory Mechanisms
- Comparison of mRNA Splicing Assay Protocols across Multiple Laboratories: Recommendations for Best Practice in Standardized Clinical Testing
- (2013) P. J. Whiley et al. CLINICAL CHEMISTRY
- A Statewide Survey of Practitioners to Assess Knowledge and Clinical Practices Regarding Hereditary Breast and Ovarian Cancer
- (2013) Tuya Pal et al. Genetic Testing and Molecular Biomarkers
- RNA-Seq and human complex diseases: recent accomplishments and future perspectives
- (2012) Valerio Costa et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants
- (2012) Claude Houdayer et al. HUMAN MUTATION
- STRUCTURE-FUNCTION OF THE TUMOR SUPPRESSOR BRCA1
- (2012) Serena L. Clark et al. Computational and Structural Biotechnology Journal
- Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members
- (2011) Mads Thomassen et al. BREAST CANCER RESEARCH AND TREATMENT
- ENIGMA-Evidence-based network for the interpretation of germline mutant alleles: An international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes
- (2011) Amanda B. Spurdle et al. HUMAN MUTATION
- Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity
- (2010) Logan C. Walker et al. HUMAN MUTATION
- Functional Assays for Classification of BRCA2 Variants of Uncertain Significance
- (2008) D. J. Farrugia et al. CANCER RESEARCH
- Alternative isoform regulation in human tissue transcriptomes
- (2008) Eric T. Wang et al. NATURE
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started