Catching hidden variation: systematic correction of reference minor allele annotation in clinical variant calling
出版年份 2017 全文链接
标题
Catching hidden variation: systematic correction of reference minor allele annotation in clinical variant calling
作者
关键词
-
出版物
GENETICS IN MEDICINE
Volume 20, Issue 3, Pages 360-364
出版商
Springer Nature
发表日期
2017-10-26
DOI
10.1038/gim.2017.168
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。- Analysis of protein-coding genetic variation in 60,706 humans
- (2016) Monkol Lek et al. NATURE
- PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels
- (2015) Yongwook Choi et al. BIOINFORMATICS
- Characterization and identification of hidden rare variants in the human genome
- (2015) Alberto Magi et al. BMC GENOMICS
- 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
- A global reference for human genetic variation
- (2015) Richard A. Gibbs et al. NATURE
- VaRank: a simple and powerful tool for ranking genetic variants
- (2015) Véronique Geoffroy et al. PeerJ
- The Use of Non-Variant Sites to Improve the Clinical Assessment of Whole-Genome Sequence Data
- (2015) Alberto Ferrarini et al. PLoS One
- COSMIC: exploring the world's knowledge of somatic mutations in human cancer
- (2014) Simon A. Forbes et al. NUCLEIC ACIDS RESEARCH
- Exome Sequencing Identifies Potential Risk Variants for Mendelian Disorders at High Prevalence in Qatar
- (2013) Juan L. Rodriguez-Flores et al. HUMAN MUTATION
- dbNSFP v2.0: A Database of Human Non-synonymous SNVs and Their Functional Predictions and Annotations
- (2013) Xiaoming Liu et al. HUMAN MUTATION
- Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants
- (2012) Wenqing Fu et al. NATURE
- Predicting the Functional Effect of Amino Acid Substitutions and Indels
- (2012) Yongwook Choi et al. PLoS One
- Phased Whole-Genome Genetic Risk in a Family Quartet Using a Major Allele Reference Sequence
- (2011) Frederick E. Dewey et al. PLoS Genetics
- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
- Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
- (2009) Prateek Kumar et al. Nature Protocols
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 MoreBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started