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Title
ClinGen Allele Registry links information about genetic variants
Authors
Keywords
-
Journal
HUMAN MUTATION
Volume 39, Issue 11, Pages 1690-1701
Publisher
Wiley
Online
2018-10-12
DOI
10.1002/humu.23637
References
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Related references
Note: Only part of the references are listed.- CIViC is a community knowledgebase for expert crowdsourcing the clinical interpretation of variants in cancer
- (2017) Malachi Griffith et al. NATURE GENETICS
- A variant by any name: quantifying annotation discordance across tools and clinical databases
- (2017) Jennifer L. Yen et al. Genome Medicine
- ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants
- (2017) Ronak Y. Patel et al. Genome Medicine
- Gene Variant Databases and Sharing: Creating a Global Genomic Variant Database for Personalized Medicine
- (2016) Lora J.H. Bean et al. HUMAN MUTATION
- Analysis of protein-coding genetic variation in 60,706 humans
- (2016) Monkol Lek et al. NATURE
- COSMIC: somatic cancer genetics at high-resolution
- (2016) Simon A. Forbes et al. NUCLEIC ACIDS RESEARCH
- A federated ecosystem for sharing genomic, clinical data
- (2016) SCIENCE
- The Ensembl gene annotation system
- (2016) Bronwen L. Aken et al. Database-The Journal of Biological Databases and Curation
- The FAIR Guiding Principles for scientific data management and stewardship
- (2016) Mark D. Wilkinson et al. Scientific Data
- 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
- Genomic variant annotation and prioritization with ANNOVAR and wANNOVAR
- (2015) Hui Yang et al. Nature Protocols
- Reference sequence (RefSeq) database at NCBI: current status, taxonomic expansion, and functional annotation
- (2015) Nuala A. O'Leary et al. NUCLEIC ACIDS RESEARCH
- ClinVar: public archive of interpretations of clinically relevant variants
- (2015) Melissa J. Landrum et al. NUCLEIC ACIDS RESEARCH
- CSN and CAVA: variant annotation tools for rapid, robust next-generation sequencing analysis in the clinical setting
- (2015) Márton Münz et al. Genome Medicine
- COSMIC: exploring the world's knowledge of somatic mutations in human cancer
- (2014) Simon A. Forbes et al. NUCLEIC ACIDS RESEARCH
- Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants
- (2013) Jacqueline A. L. MacArthur et al. NUCLEIC ACIDS RESEARCH
- wANNOVAR: annotating genetic variants for personal genomes via the web
- (2012) Xiao Chang et al. JOURNAL OF MEDICAL GENETICS
- LOVD v.2.0: the next generation in gene variant databases
- (2011) Ivo F. A. C. Fokkema et al. HUMAN MUTATION
- ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
- (2010) K. Wang et al. NUCLEIC ACIDS RESEARCH
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