A general framework for estimating the relative pathogenicity of human genetic variants
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[1] R. Grantham. Amino Acid Difference Formula to Help Explain Protein Evolution , 1974, Science.
[2] M. Kimura,et al. The neutral theory of molecular evolution. , 1983, Scientific American.
[3] John M. Chambers,et al. Graphical Methods for Data Analysis , 1983 .
[4] S. Tavaré. Some probabilistic and statistical problems in the analysis of DNA sequences , 1986 .
[5] P Green,et al. Base-calling of automated sequencer traces using phred. II. Error probabilities. , 1998, Genome research.
[6] P. Green,et al. Base-calling of automated sequencer traces using phred. I. Accuracy assessment. , 1998, Genome research.
[7] T. Jukes,et al. The neutral theory of molecular evolution. , 2000, Genetics.
[8] Steven Henikoff,et al. SIFT: predicting amino acid changes that affect protein function , 2003, Nucleic Acids Res..
[9] S. Batzoglou,et al. Distribution and intensity of constraint in mammalian genomic sequence. , 2005, Genome research.
[10] D. Haussler,et al. Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes. , 2005, Genome research.
[11] Webb Miller,et al. HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update , 2007, Human mutation.
[12] A. Mortazavi,et al. Genome-Wide Mapping of in Vivo Protein-DNA Interactions , 2007, Science.
[13] David Haussler,et al. The UCSC genome browser database: update 2007 , 2006, Nucleic Acids Res..
[14] E. Birney,et al. Enredo and Pecan: genome-wide mammalian consistency-based multiple alignment with paralogs. , 2008, Genome research.
[15] Z. Weng,et al. High-Resolution Mapping and Characterization of Open Chromatin across the Genome , 2008, Cell.
[16] E. Birney,et al. Genome-wide nucleotide-level mammalian ancestor reconstruction. , 2008, Genome research.
[17] Jianzhi Zhang,et al. Null mutations in human and mouse orthologs frequently result in different phenotypes , 2008, Proceedings of the National Academy of Sciences.
[18] Sören Sonnenburg,et al. Optimized Cutting Plane Algorithm for Large-Scale Risk Minimization , 2009, J. Mach. Learn. Res..
[19] P. Stenson,et al. The Human Gene Mutation Database: 2008 update , 2009, Genome Medicine.
[20] P. Green,et al. Widespread Genomic Signatures of Natural Selection in Hominid Evolution , 2009, PLoS genetics.
[21] F. Collins,et al. Potential etiologic and functional implications of genome-wide association loci for human diseases and traits , 2009, Proceedings of the National Academy of Sciences.
[22] Jay Shendure,et al. High-resolution analysis of DNA regulatory elements by synthetic saturation mutagenesis , 2009, Nature Biotechnology.
[23] Emily H Turner,et al. Targeted Capture and Massively Parallel Sequencing of Twelve Human Exomes , 2009, Nature.
[24] P. Bork,et al. A method and server for predicting damaging missense mutations , 2010, Nature Methods.
[25] Jay Shendure,et al. Single-nucleotide evolutionary constraint scores highlight disease-causing mutations , 2010, Nature Methods.
[26] Olle Melander,et al. From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus , 2010, Nature.
[27] K. Pollard,et al. Detection of nonneutral substitution rates on mammalian phylogenies. , 2010, Genome research.
[28] Serafim Batzoglou,et al. Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++ , 2010, PLoS Comput. Biol..
[29] N. Cox,et al. Trait-Associated SNPs Are More Likely to Be eQTLs: Annotation to Enhance Discovery from GWAS , 2010, PLoS genetics.
[30] Ting Wang,et al. ENCODE whole-genome data in the UCSC Genome Browser , 2009, Nucleic Acids Res..
[31] Emily H Turner,et al. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome , 2010, Nature Genetics.
[32] Daniel Rios,et al. Bioinformatics Applications Note Databases and Ontologies Deriving the Consequences of Genomic Variants with the Ensembl Api and Snp Effect Predictor , 2022 .
[33] Mary Goldman,et al. The UCSC Genome Browser database: update 2011 , 2010, Nucleic Acids Res..
[34] Adam C. Siepel,et al. PHAST and RPHAST: phylogenetic analysis with space/time models , 2011, Briefings Bioinform..
[35] J. Shendure,et al. Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data , 2011, Nature Reviews Genetics.
[36] A. Gonzalez-Perez,et al. Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel. , 2011, American journal of human genetics.
[37] E. Boerwinkle,et al. dbNSFP: A Lightweight Database of Human Nonsynonymous SNPs and Their Functional Predictions , 2011, Human mutation.
[38] Gregory M. Cooper,et al. A Copy Number Variation Morbidity Map of Developmental Delay , 2011, Nature Genetics.
[39] M. Rieder,et al. Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations , 2011, Nature Genetics.
[40] D. Haussler,et al. ENCODE whole-genome data in the UCSC Genome Browser: update 2012 , 2011, Nucleic Acids Res..
[41] B. V. van Bon,et al. Diagnostic exome sequencing in persons with severe intellectual disability. , 2012, The New England journal of medicine.
[42] Kenny Q. Ye,et al. De Novo Gene Disruptions in Children on the Autistic Spectrum , 2012, Neuron.
[43] Michael F. Walker,et al. De novo mutations revealed by whole-exome sequencing are strongly associated with autism , 2012, Nature.
[44] Manolis Kellis,et al. Interpreting noncoding genetic variation in complex traits and human disease , 2012, Nature Biotechnology.
[45] D. Horn,et al. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study , 2012, The Lancet.
[46] Jacob A. Tennessen,et al. Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes , 2012, Science.
[47] Bradley P. Coe,et al. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations , 2012, Nature.
[48] David Z. Chen,et al. Architecture of the human regulatory network derived from ENCODE data , 2012, Nature.
[49] D. Reich,et al. Cost-effective, high-throughput DNA sequencing libraries for multiplexed target capture , 2012, Genome research.
[50] Joseph B Hiatt,et al. Massively parallel functional dissection of mammalian enhancers in vivo , 2012, Nature Biotechnology.
[51] Data production leads,et al. An integrated encyclopedia of DNA elements in the human genome , 2012 .
[52] Adrian W. Briggs,et al. A High-Coverage Genome Sequence from an Archaic Denisovan Individual , 2012, Science.
[53] S. Batzoglou,et al. Linking disease associations with regulatory information in the human genome , 2012, Genome research.
[54] Kenny Q. Ye,et al. An integrated map of genetic variation from 1,092 human genomes , 2012, Nature.
[55] ENCODEConsortium,et al. An Integrated Encyclopedia of DNA Elements in the Human Genome , 2012, Nature.
[56] Joseph K. Pickrell,et al. A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes , 2012, Science.
[57] William Stafford Noble,et al. Unsupervised pattern discovery in human chromatin structure through genomic segmentation , 2012, Nature Methods.
[58] Evan T. Geller,et al. Patterns and rates of exonic de novo mutations in autism spectrum disorders , 2012, Nature.
[59] Monya Baker,et al. One-stop shop for disease genes , 2012, Nature.
[60] Mary Goldman,et al. The UCSC Genome Browser database: extensions and updates 2011 , 2011, Nucleic Acids Res..
[61] Ilan Gronau,et al. Genome-wide inference of natural selection on human transcription factor binding sites , 2013, Nature Genetics.
[62] S. Gabriel,et al. Analysis of 6,515 exomes reveals a recent origin of most human protein-coding variants , 2012, Nature.
[63] Mary Goldman,et al. The UCSC Genome Browser database: extensions and updates 2013 , 2012, Nucleic Acids Res..
[64] Mark Gerstein,et al. Interpretation of Genomic Variants Using a Unified Biological Network Approach , 2013, PLoS Comput. Biol..
[65] A. Hoischen,et al. MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype–phenotype study , 2013, Clinical genetics.
[66] R. Reading,et al. Diagnostic exome sequencing in persons with severe intellectual disability , 2013 .
[67] Anna Murray,et al. Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis , 2013, Nature Genetics.