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Title
SG-ADVISER CNV: copy-number variant annotation and interpretation
Authors
Keywords
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Journal
GENETICS IN MEDICINE
Volume 17, Issue 9, Pages 714-718
Publisher
Springer Nature
Online
2014-12-19
DOI
10.1038/gim.2014.180
References
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- CNVnator: An approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing
- (2011) A. Abyzov et al. GENOME RESEARCH
- Mapping copy number variation by population-scale genome sequencing
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- Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants
- (2011) Dalila Pinto et al. NATURE BIOTECHNOLOGY
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- CNV Workshop: an integrated platform for high-throughput copy number variation discovery and clinical diagnostics
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- De novo rates and selection of large copy number variation
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- COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer
- (2010) S. A. Forbes et al. NUCLEIC ACIDS RESEARCH
- Copy Number Variation in Human Health, Disease, and Evolution
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- Strong association of de novo copy number mutations with sporadic schizophrenia
- (2008) Bin Xu et al. NATURE GENETICS
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