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。CRAVAT: cancer-related analysis of variants toolkit
Christopher Douville et al.
BIOINFORMATICS (2013)
Congruency in the prediction of pathogenic missense mutations: state-of-the-art web-based tools
Stefano Castellana et al.
BRIEFINGS IN BIOINFORMATICS (2013)
Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models
Hashem A. Shihab et al.
HUMAN MUTATION (2013)
SNPdbe: constructing an nsSNP functional impacts database
Christian Schaefer et al.
BIOINFORMATICS (2012)
The neglected genome
Graziano Pesole et al.
EMBO REPORTS (2012)
A Combined Functional Annotation Score for Non-Synonymous Variants
Margarida C. Lopes et al.
HUMAN HEREDITY (2012)
Evolutionary diagnosis method for variants in personal exomes
Sudhir Kumar et al.
NATURE METHODS (2012)
SNPeffect 4.0: on-line prediction of molecular and structural effects of protein-coding variants
Greet De Baets et al.
NUCLEIC ACIDS RESEARCH (2012)
HmtDB, a genomic resource for mitochondrion-based human variability studies
Francesco Rubino et al.
NUCLEIC ACIDS RESEARCH (2012)
Predicting the Functional Effect of Amino Acid Substitutions and Indels
Yongwook Choi et al.
PLOS ONE (2012)
Improving the Assessment of the Outcome of Nonsynonymous SNVs with a Consensus Deleteriousness Score, Condel
Abel Gonzalez-Perez et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
In silico SNP analysis and bioinformatics tools: a review of the state of the art to aid drug discovery
James T. L. Mah et al.
DRUG DISCOVERY TODAY (2011)
Evolutionary Patterns of the Mitochondrial Genome in Metazoa: Exploring the Role of Mutation and Selection in Mitochondrial Protein-Coding Genes
S. Castellana et al.
GENOME BIOLOGY AND EVOLUTION (2011)
Prediction of Missense Mutation Functionality Depends on Both the Algorithm and Sequence Alignment Employed
Stephanie Hicks et al.
HUMAN MUTATION (2011)
Performance of Mutation Pathogenicity Prediction Methods on Missense Variants
Janita Thusberg et al.
HUMAN MUTATION (2011)
dbNSFP: A Lightweight Database of Human Nonsynonymous SNPs and Their Functional Predictions
Xiaoming Liu et al.
HUMAN MUTATION (2011)
Predicting the functional impact of protein mutations: application to cancer genomics
Boris Reva et al.
NUCLEIC ACIDS RESEARCH (2011)
Non-neutral nonsynonymous single nucleotide polymorphisms in human ABC transporters: the first comparison of six prediction methods
Da Cheng Hao et al.
PHARMACOLOGICAL REPORTS (2011)
Computational and statistical approaches to analyzing variants identified by exome sequencing
Nathan O. Stitziel et al.
GENOME BIOLOGY (2011)
Mitochondrial DNA mutations and human disease
Helen A. L. Tuppen et al.
BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS (2010)
Detection of nonneutral substitution rates on mammalian phylogenies
Katherine S. Pollard et al.
GENOME RESEARCH (2010)
MutationTaster evaluates disease-causing potential of sequence alterations
Jana Marie Schwarz et al.
NATURE METHODS (2010)
Automated inference of molecular mechanisms of disease from amino acid substitutions
Biao Li et al.
BIOINFORMATICS (2009)
Identification of deleterious mutations within three human genomes
Sung Chun et al.
GENOME RESEARCH (2009)
Climate shaped the worldwide distribution of human mitochondrial DNA sequence variation
Francois Balloux et al.
PROCEEDINGS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES (2009)
The adaptive evolution of the mammalian mitochondrial genome
Rute R. da Fonseca et al.
BMC GENOMICS (2008)
Strong purifying selection in transmission of mammalian mitochondrial DNA
James Bruce Stewart et al.
PLOS BIOLOGY (2008)
Accumulation of slightly deleterious mutations in mitochondrial protein-coding genes of large versus small mammals
Konstantin Popadin et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
SNAP: predict effect of non-synonymous polymorphisms on function
Yana Bromberg et al.
NUCLEIC ACIDS RESEARCH (2007)
Transitions to asexuality result in excess amino acid substitutions
S Paland et al.
SCIENCE (2006)
SIFT: predicting amino acid changes that affect protein function
PC Ng et al.
NUCLEIC ACIDS RESEARCH (2003)
The Ensembl genome database project
T Hubbard et al.
NUCLEIC ACIDS RESEARCH (2002)