标题
MutationTaster2021
作者
关键词
-
出版物
NUCLEIC ACIDS RESEARCH
Volume -, Issue -, Pages -
出版商
Oxford University Press (OUP)
发表日期
2021-04-02
DOI
10.1093/nar/gkab266
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。- The mutational constraint spectrum quantified from variation in 141,456 humans
- (2020) Konrad J. Karczewski et al. NATURE
- VarFish: comprehensive DNA variant analysis for diagnostics and research
- (2020) Manuel Holtgrewe et al. NUCLEIC ACIDS RESEARCH
- The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting
- (2020) Peter D. Stenson et al. HUMAN GENETICS
- RegulationSpotter: annotation and interpretation of extratranscriptic DNA variants
- (2019) Jana Marie Schwarz et al. NUCLEIC ACIDS RESEARCH
- MutationDistiller: user-driven identification of pathogenic DNA variants
- (2019) Daniela Hombach et al. NUCLEIC ACIDS RESEARCH
- De novo Mutations From Whole Exome Sequencing in Neurodevelopmental and Psychiatric Disorders: From Discovery to Application
- (2019) Weidi Wang et al. Frontiers in Genetics
- ClinVar: improvements to accessing data
- (2019) Melissa J Landrum et al. NUCLEIC ACIDS RESEARCH
- CADD: predicting the deleteriousness of variants throughout the human genome
- (2018) Philipp Rentzsch et al. NUCLEIC ACIDS RESEARCH
- Analysis of protein-coding genetic variation in 60,706 humans
- (2016) Monkol Lek et al. NATURE
- A global reference for human genetic variation
- (2015) Richard A. Gibbs et al. NATURE
- MutationTaster2: mutation prediction for the deep-sequencing age
- (2014) Jana Marie Schwarz et al. NATURE METHODS
- Improved exome prioritization of disease genes through cross-species phenotype comparison
- (2013) P. N. Robinson et al. GENOME RESEARCH
- eXtasy: variant prioritization by genomic data fusion
- (2013) Alejandro Sifrim et al. NATURE METHODS
- Interpretation of genetic variants
- (2013) Patrick R Sosnay et al. THORAX
- SIFT web server: predicting effects of amino acid substitutions on proteins
- (2012) Ngak-Leng Sim et al. NUCLEIC ACIDS RESEARCH
- MutationTaster evaluates disease-causing potential of sequence alterations
- (2010) Jana Marie Schwarz et al. NATURE METHODS
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