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。Ensembl 2020
Andrew D. Yates et al.
NUCLEIC ACIDS RESEARCH (2020)
The mutational constraint spectrum quantified from variation in 141,456 humans
Konrad J. Karczewski et al.
NATURE (2020)
The Genomics of Human Local Adaptation
Jasmin S. Rees et al.
TRENDS IN GENETICS (2020)
Inferring the molecular and phenotypic impact of amino acid variants with MutPred2
Vikas Pejaver et al.
NATURE COMMUNICATIONS (2020)
Similarities and differences between variants called with human reference genome HG19 or HG38
Bohu Pan et al.
BMC BIOINFORMATICS (2019)
Improved measures for evolutionary conservation that exploit taxonomy distances
Nawar Malhis et al.
NATURE COMMUNICATIONS (2019)
funtrp: identifying protein positions for variation driven functional tuning
Maximilian Miller et al.
NUCLEIC ACIDS RESEARCH (2019)
A review study: Computational techniques for expecting the impact of non-synonymous single nucleotide variants in human diseases
Marwa S. Hassan et al.
GENE (2019)
The personal and clinical utility of polygenic risk scores
Ali Torkamani et al.
NATURE REVIEWS GENETICS (2018)
Quantitative Missense Variant Effect Prediction Using Large-Scale Mutagenesis Data
Vanessa E. Gray et al.
CELL SYSTEMS (2018)
Human adaptation to extreme environmental conditions
Melissa Ilardo et al.
CURRENT OPINION IN GENETICS & DEVELOPMENT (2018)
TimeTree: A Resource for Timelines, Timetrees, and Divergence Times
Sudhir Kumar et al.
MOLECULAR BIOLOGY AND EVOLUTION (2017)
PhD-SNPg: a webserver and lightweight tool for scoring single nucleotide variants
Emidio Capriotti et al.
NUCLEIC ACIDS RESEARCH (2017)
Common sequence variants affect molecular function more than rare variants?
Yannick Mahlich et al.
SCIENTIFIC REPORTS (2017)
10 Years of GWAS Discovery: Biology, Function, and Translation
Peter M. Visscher et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2017)
Analysis of protein-coding genetic variation in 60,706 humans
Monkol Lek et al.
NATURE (2016)
PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels
Yongwook Choi et al.
BIOINFORMATICS (2015)
Better prediction of functional effects for sequence variants
Maximilian Hecht et al.
BMC GENOMICS (2015)
A global reference for human genetic variation
David M. Altshuler et al.
NATURE (2015)
DANN: a deep learning approach for annotating the pathogenicity of genetic variants
Daniel Quang et al.
BIOINFORMATICS (2015)
Advantageous diversity maintained by balancing selection in humans
Felix M. Key et al.
CURRENT OPINION IN GENETICS & DEVELOPMENT (2014)
A general framework for estimating the relative pathogenicity of human genetic variants
Martin Kircher et al.
NATURE GENETICS (2014)
Deep mutational scanning: a new style of protein science
Douglas M. Fowler et al.
NATURE METHODS (2014)
MutationTaster2: mutation prediction for the deep-sequencing age
Jana Marie Schwarz et al.
NATURE METHODS (2014)
PredictProtein-an open resource for online prediction of protein structural and functional features
Guy Yachdav et al.
NUCLEIC ACIDS RESEARCH (2014)
Selection on a Variant Associated with Improved Viral Clearance Drives Local, Adaptive Pseudogenization of Interferon Lambda 4 (IFNL4)
Felix M. Key et al.
PLOS GENETICS (2014)
Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models
Hashem A. Shihab et al.
HUMAN MUTATION (2013)
Towards Precision Medicine: Advances in Computational Approaches for the Analysis of Human Variants
Thomas A. Peterson et al.
JOURNAL OF MOLECULAR BIOLOGY (2013)
Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants
Wenqing Fu et al.
NATURE (2013)
Comprehensive Characterization of Human Genome Variation by High Coverage Whole-Genome Sequencing of Forty Four Caucasians
Hui Shen et al.
PLOS ONE (2013)
Neutral and weakly nonneutral sequence variants may define individuality
Yana Bromberg et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)
Computational tools for prioritizing candidate genes: boosting disease gene discovery
Yves Moreau et al.
NATURE REVIEWS GENETICS (2012)
Ensembl BioMarts: a hub for data retrieval across taxonomic space
Rhoda J. Kinsella et al.
DATABASE-THE JOURNAL OF BIOLOGICAL DATABASES AND CURATION (2011)
Modernizing Reference Genome Assemblies
Deanna M. Church et al.
PLOS BIOLOGY (2011)
A map of human genome variation from population-scale sequencing
David Altshuler et al.
NATURE (2010)
A method and server for predicting damaging missense mutations
Ivan A. Adzhubei et al.
NATURE METHODS (2010)
The Sequence Alignment/Map format and SAMtools
Heng Li et al.
BIOINFORMATICS (2009)
Functional Annotations Improve the Predictive Score of Human Disease-Related Mutations in Proteins
Remo Calabrese et al.
HUMAN MUTATION (2009)
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
Prateek Kumar et al.
NATURE PROTOCOLS (2009)
McKusick's Online Mendelian Inheritance in Man (OMIM®)
Joanna Amberger et al.
NUCLEIC ACIDS RESEARCH (2009)
SNAP: predict effect of non-synonymous polymorphisms on function
Yana Bromberg et al.
NUCLEIC ACIDS RESEARCH (2007)
Evolutionary anatomies of positions and types of disease-associated and neutral amino acid mutations in the human genome
Sankar Subramanian et al.
BMC GENOMICS (2006)
An algorithm for progressive multiple alignment of sequences with insertions
A Löytynoja et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)
I-Mutant2.0: predicting stability changes upon mutation from the protein sequence or structure
E Capriotti et al.
NUCLEIC ACIDS RESEARCH (2005)
The spectrum of human rhodopsin disease mutations through the lens of interspecific variation
AD Briscoe et al.
GENE (2004)
SIFT: predicting amino acid changes that affect protein function
PC Ng et al.
NUCLEIC ACIDS RESEARCH (2003)
ConSurf: Identification of Functional Regions in Proteins by Surface-Mapping of Phylogenetic Information
F Glaser et al.
BIOINFORMATICS (2003)
Initial sequencing and comparative analysis of the mouse genome
RH Waterston et al.
NATURE (2002)
Dobzhansky-Muller incompatibilities in protein evolution
AS Kondrashov et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2002)
Predicting deleterious amino acid substitutions
PC Ng et al.
GENOME RESEARCH (2001)
Prediction of deleterious human alleles
S Sunyaev et al.
HUMAN MOLECULAR GENETICS (2001)
Initial sequencing and analysis of the human genome
ES Lander et al.
NATURE (2001)
分享论文
