MAPPIN: a method for annotating, predicting pathogenicity and mode of inheritance for nonsynonymous variants
出版年份 2017 全文链接
标题
MAPPIN: a method for annotating, predicting pathogenicity and mode of inheritance for nonsynonymous variants
作者
关键词
-
出版物
NUCLEIC ACIDS RESEARCH
Volume 45, Issue 18, Pages 10393-10402
出版商
Oxford University Press (OUP)
发表日期
2017-08-22
DOI
10.1093/nar/gkx730
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- Lessons learned from additional research analyses of unsolved clinical exome cases
- (2017) Mohammad K. Eldomery et al. Genome Medicine
- dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs
- (2016) Xiaoming Liu et al. HUMAN MUTATION
- Analysis of protein-coding genetic variation in 60,706 humans
- (2016) Monkol Lek et al. NATURE
- A spectral approach integrating functional genomic annotations for coding and noncoding variants
- (2016) Iuliana Ionita-Laza et al. NATURE GENETICS
- The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities
- (2015) Jessica X. Chong et al. AMERICAN JOURNAL OF HUMAN GENETICS
- The Evaluation of Tools Used to Predict the Impact of Missense Variants Is Hindered by Two Types of Circularity
- (2015) Dominik G. Grimm et al. HUMAN MUTATION
- A global reference for human genetic variation
- (2015) Richard A. Gibbs et al. NATURE
- ClinVar: public archive of interpretations of clinically relevant variants
- (2015) Melissa J. Landrum et al. NUCLEIC ACIDS RESEARCH
- Can the impact of human genetic variations be predicted?
- (2015) Yuval Itan et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- A general framework for estimating the relative pathogenicity of human genetic variants
- (2014) Martin Kircher et al. NATURE GENETICS
- A framework for the interpretation of de novo mutation in human disease
- (2014) Kaitlin E Samocha et al. NATURE GENETICS
- MutationTaster2: mutation prediction for the deep-sequencing age
- (2014) Jana Marie Schwarz et al. NATURE METHODS
- In silico prediction of splice-altering single nucleotide variants in the human genome
- (2014) Xueqiu Jian et al. NUCLEIC ACIDS RESEARCH
- Dissecting Disease Inheritance Modes in a Three-Dimensional Protein Network Challenges the “Guilt-by-Association” Principle
- (2013) Yu Guo et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles
- (2013) P. M. Boone et al. GENOME RESEARCH
- The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine
- (2013) Peter D. Stenson et al. HUMAN GENETICS
- The Genotype-Tissue Expression (GTEx) project
- (2013) John Lonsdale et al. NATURE GENETICS
- Ensembl 2014
- (2013) Paul Flicek et al. NUCLEIC ACIDS RESEARCH
- Interpretation of Genomic Variants Using a Unified Biological Network Approach
- (2013) Ekta Khurana et al. PLoS Computational Biology
- Predicting Mendelian Disease-Causing Non-Synonymous Single Nucleotide Variants in Exome Sequencing Studies
- (2013) Miao-Xin Li et al. PLoS Genetics
- VAT: a computational framework to functionally annotate variants in personal genomes within a cloud-computing environment
- (2012) Lukas Habegger et al. BIOINFORMATICS
- Identifying disease mutations in genomic medicine settings: current challenges and how to accelerate progress
- (2012) Gholson J Lyon et al. Genome Medicine
- The GENCODE pseudogene resource
- (2012) Baikang Pei et al. GENOME BIOLOGY
- Improving the Assessment of the Outcome of Nonsynonymous SNVs with a Consensus Deleteriousness Score, Condel
- (2011) Abel González-Pérez et al. AMERICAN JOURNAL OF HUMAN GENETICS
- miRWalk – Database: Prediction of possible miRNA binding sites by “walking” the genes of three genomes
- (2011) Harsh Dweep et al. JOURNAL OF BIOMEDICAL INFORMATICS
- Exome sequencing as a tool for Mendelian disease gene discovery
- (2011) Michael J. Bamshad et al. NATURE REVIEWS GENETICS
- PhosphoSitePlus: a comprehensive resource for investigating the structure and function of experimentally determined post-translational modifications in man and mouse
- (2011) P. V. Hornbeck et al. NUCLEIC ACIDS RESEARCH
- Using SIFT and PolyPhen to Predict Loss-of-Function and Gain-of-Function Mutations
- (2010) Sarah E. Flanagan et al. Genetic Testing and Molecular Biomarkers
- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
- Characterising and Predicting Haploinsufficiency in the Human Genome
- (2010) Ni Huang et al. PLoS Genetics
- Identification of deleterious mutations within three human genomes
- (2009) S. Chun et al. GENOME RESEARCH
- Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
- (2009) Prateek Kumar et al. Nature Protocols
- Natural Selection on Genes that Underlie Human Disease Susceptibility
- (2008) Ran Blekhman et al. CURRENT BIOLOGY
- The complete genome of an individual by massively parallel DNA sequencing
- (2008) David A. Wheeler et al. NATURE
- The diploid genome sequence of an Asian individual
- (2008) Jun Wang et al. NATURE
- Genetic Variation in an Individual Human Exome
- (2008) Pauline C. Ng et al. PLoS Genetics
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