An open resource for accurately benchmarking small variant and reference calls
Published 2019 View Full Article
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Title
An open resource for accurately benchmarking small variant and reference calls
Authors
Keywords
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Journal
NATURE BIOTECHNOLOGY
Volume 37, Issue 5, Pages 561-566
Publisher
Springer Science and Business Media LLC
Online
2019-04-02
DOI
10.1038/s41587-019-0074-6
References
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Related references
Note: Only part of the references are listed.- Best practices for benchmarking germline small-variant calls in human genomes
- (2019) Peter Krusche et al. NATURE BIOTECHNOLOGY
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- Systematic Evaluation of Sanger Validation of Next-Generation Sequencing Variants
- (2016) T. F. Beck et al. CLINICAL CHEMISTRY
- A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree
- (2016) Michael A. Eberle et al. GENOME RESEARCH
- Multiplexed Reference Materials as Controls for Diagnostic Next-Generation Sequencing
- (2016) Emily M. Kudalkar et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- Deep sequencing of 10,000 human genomes
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- Extensive sequencing of seven human genomes to characterize benchmark reference materials
- (2016) Justin M. Zook et al. Scientific Data
- Assessing structural variation in a personal genome—towards a human reference diploid genome
- (2015) Adam C English et al. BMC GENOMICS
- A Systematic Comparison of Traditional and Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Genes in More Than 1000 Patients
- (2015) Stephen E. Lincoln et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- A global reference for human genetic variation
- (2015) Richard A. Gibbs et al. NATURE
- Leveraging long read sequencing from a single individual to provide a comprehensive resource for benchmarking variant calling methods
- (2015) John C. Mu et al. Scientific Reports
- Achieving high-sensitivity for clinical applications using augmented exome sequencing
- (2015) Anil Patwardhan et al. Genome Medicine
- A Comparison of Variant Calling Pipelines Using Genome in a Bottle as a Reference
- (2015) Adam Cornish et al. Biomed Research International
- Joint Variant and De Novo Mutation Identification on Pedigrees from High-Throughput Sequencing Data
- (2014) John G. Cleary et al. JOURNAL OF COMPUTATIONAL BIOLOGY
- Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls
- (2014) Justin M Zook et al. NATURE BIOTECHNOLOGY
- A public resource facilitating clinical use of genomes
- (2012) Madeleine P. Ball et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Variation in genome-wide mutation rates within and between human families
- (2011) Donald F Conrad et al. NATURE GENETICS
- A framework for variation discovery and genotyping using next-generation DNA sequencing data
- (2011) Mark A DePristo et al. NATURE GENETICS
- The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
- (2010) A. McKenna et al. GENOME RESEARCH
- Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays
- (2009) R. Drmanac et al. SCIENCE
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