Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar
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Title
Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar
Authors
Keywords
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Journal
GENETICS IN MEDICINE
Volume 19, Issue 10, Pages 1096-1104
Publisher
Springer Nature
Online
2017-03-17
DOI
10.1038/gim.2017.14
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- Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine
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- Variation in Mammographic Breast Density Assessments Among Radiologists in Clinical Practice
- (2016) Brian L. Sprague et al. ANNALS OF INTERNAL MEDICINE
- Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing
- (2016) Judith Balmaña et al. JOURNAL OF CLINICAL ONCOLOGY
- Analysis of protein-coding genetic variation in 60,706 humans
- (2016) Monkol Lek et al. NATURE
- The challenge of comprehensive and consistent sequence variant interpretation between clinical laboratories
- (2015) Melanie G. Pepin et al. GENETICS IN MEDICINE
- 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
- Actionable exomic incidental findings in 6503 participants: challenges of variant classification
- (2015) Laura M. Amendola et al. GENOME RESEARCH
- Diagnostic Concordance Among Pathologists Interpreting Breast Biopsy Specimens
- (2015) Joann G. Elmore et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- ClinGen — The Clinical Genome Resource
- (2015) Heidi L. Rehm et al. NEW ENGLAND JOURNAL OF MEDICINE
- ClinVar: public archive of interpretations of clinically relevant variants
- (2015) Melissa J. Landrum et al. NUCLEIC ACIDS RESEARCH
- Use of panel tests in place of single gene tests in the cancer genetics clinic
- (2014) A. Yorczyk et al. CLINICAL GENETICS
- Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database
- (2013) Bryony A Thompson et al. NATURE GENETICS
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