Genetic Variation in an Individual Human Exome
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Timothy B. Stockwell | S. Levy | P. Ng | B. Walenz | Nelson Axelrod | Jiaqi Huang | T. Stockwell | D. Busam | R. Strausberg | J. Venter | N. Schork | Kelvin Li
[1] M. Kimura. Evolutionary Rate at the Molecular Level , 1968, Nature.
[2] G. A. Watterson,et al. Is the most frequent allele the oldest? , 1977, Theoretical population biology.
[3] M. Lynch,et al. On your mark. , 1982, The Lamp.
[4] D. Mccormick. Sequence the Human Genome , 1986, Bio/Technology.
[5] S. Tsuji,et al. A novel exon mutation in the human beta-hexosaminidase beta subunit gene affects 3' splice site selection. , 1992, The Journal of biological chemistry.
[6] J. Leunissen,et al. Molecular characterization of the human peroxisomal branched-chain acyl-CoA oxidase: cDNA cloning, chromosomal assignment, tissue distribution, and evidence for the absence of the protein in Zellweger syndrome. , 1996, Proceedings of the National Academy of Sciences of the United States of America.
[7] E. Lander. The New Genomics: Global Views of Biology , 1996, Science.
[8] M. Blitzer,et al. Profound biotinidase deficiency in two asymptomatic adults. , 1997, American journal of medical genetics.
[9] T. D. Schneider,et al. Information content of individual genetic sequences. , 1997, Journal of theoretical biology.
[10] J. M. Aerts,et al. The Human Chitotriosidase Gene , 1998, The Journal of Biological Chemistry.
[11] B. Wolf,et al. Mutations Causing Profound Biotinidase Deficiency in Children Ascertained by Newborn Screening in the United States Occur at Different Frequencies than in Symptomatic Children , 1999, Pediatric Research.
[12] M. Cargill. Characterization of single-nucleotide polymorphisms in coding regions of human genes , 1999, Nature Genetics.
[13] N. Shen,et al. Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis , 1999, Nature Genetics.
[14] N. Wald,et al. When can a risk factor be used as a worthwhile screening test? , 1999, BMJ.
[15] G. Benson,et al. Tandem repeats finder: a program to analyze DNA sequences. , 1999, Nucleic acids research.
[16] A. Chakravarti. Population genetics—making sense out of sequence , 1999, Nature Genetics.
[17] Lukas Wagner,et al. A Greedy Algorithm for Aligning DNA Sequences , 2000, J. Comput. Biol..
[18] E W Jabs,et al. Online Mendelian Inheritance in Man (OMIM) as a knowledgebase for human developmental disorders , 2000, Clinical genetics.
[19] L. Kruglyak,et al. An analysis of strategies for discovery of single‐nucleotide polymorphisms , 2000, Genetic epidemiology.
[20] International Human Genome Sequencing Consortium. Initial sequencing and analysis of the human genome , 2001, Nature.
[21] Elizabeth M. Smigielski,et al. dbSNP: the NCBI database of genetic variation , 2001, Nucleic Acids Res..
[22] M. Daly,et al. A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms , 2001, Nature.
[23] Warren C. Lathe,et al. Prediction of deleterious human alleles. , 2001, Human molecular genetics.
[24] D. Chasman,et al. Predicting the functional consequences of non-synonymous single nucleotide polymorphisms: structure-based assessment of amino acid variation. , 2001, Journal of molecular biology.
[25] Timothy B. Stockwell,et al. The Sequence of the Human Genome , 2001, Science.
[26] J. Stephens,et al. Haplotype Variation and Linkage Disequilibrium in 313 Human Genes , 2001, Science.
[27] J. Mullikin,et al. SSAHA: a fast search method for large DNA databases. , 2001, Genome research.
[28] G. Abecasis,et al. Gene polymorphism in Netherton and common atopic disease , 2001, Nature Genetics.
[29] J. V. Moran,et al. Initial sequencing and analysis of the human genome. , 2001, Nature.
[30] B. Trask,et al. The sense of smell: genomics of vertebrate odorant receptors. , 2002, Human molecular genetics.
[31] Mouse Genome Sequencing Consortium. Initial sequencing and comparative analysis of the mouse genome , 2002, Nature.
[32] P. Bork,et al. Association of genes to genetically inherited diseases using data mining , 2002, Nature Genetics.
[33] P. Bork,et al. Human non-synonymous SNPs: server and survey. , 2002, Nucleic acids research.
[34] S. Henikoff,et al. Accounting for human polymorphisms predicted to affect protein function. , 2002, Genome research.
[35] P. Jeggo,et al. Genetic variants of NHEJ DNA ligase IV can affect the risk of developing multiple myeloma, a tumour characterised by aberrant class switch recombination , 2002, Journal of medical genetics.
[36] J. Lupski,et al. Molecular mechanisms for genomic disorders. , 2003, Annual review of genomics and human genetics.
[37] Colin N. Dewey,et al. Initial sequencing and comparative analysis of the mouse genome. , 2002 .
[38] L. Hurst. The Ka/Ks ratio: diagnosing the form of sequence evolution. , 2002, Trends in genetics : TIG.
[39] Alan F. Scott,et al. Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders , 2002, Nucleic Acids Res..
[40] Richard Judson,et al. Genome-wide evaluation of the public SNP databases. , 2003, Pharmacogenomics.
[41] M. Egan,et al. The BDNF val66met Polymorphism Affects Activity-Dependent Secretion of BDNF and Human Memory and Hippocampal Function , 2003, Cell.
[42] S. Gabriel,et al. Quality and completeness of SNP databases , 2003, Nature Genetics.
[43] D. Botstein,et al. Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease , 2003, Nature Genetics.
[44] Conrad C. Huang,et al. Natural variation in human membrane transporter genes reveals evolutionary and functional constraints , 2003, Proceedings of the National Academy of Sciences of the United States of America.
[45] P. Stenson,et al. Human Gene Mutation Database (HGMD®): 2003 update , 2003, Human mutation.
[46] Lars Bolund,et al. A population threshold for functional polymorphisms. , 2003, Genome research.
[47] Deborah A. Nickerson,et al. Additional SNPs and linkage-disequilibrium analyses are necessary for whole-genome association studies in humans , 2003, Nature Genetics.
[48] P. Stenson,et al. Human Gene Mutation Database (HGMD , 2003 .
[49] Jonathan C. Cohen,et al. Multiple Rare Alleles Contribute to Low Plasma Levels of HDL Cholesterol , 2004, Science.
[50] Sivakumar Gowrisankar,et al. Pattern of sequence variation across 213 environmental response genes. , 2004, Genome research.
[51] Association of BDNF with anorexia, bulimia and age of onset of weight loss in six European populations. , 2004, Human molecular genetics.
[52] D. Conte,et al. The mitochondrial superoxide dismutase A16V polymorphism in the cardiomyopathy associated with hereditary haemochromatosis , 2004, Journal of Medical Genetics.
[53] Lisa M. D'Souza,et al. Genome sequence of the Brown Norway rat yields insights into mammalian evolution , 2004, Nature.
[54] S. Batzoglou,et al. Characterization of evolutionary rates and constraints in three Mammalian genomes. , 2004, Genome research.
[55] Andreas Wagner,et al. Duplicate genes and robustness to transient gene knock-downs in Caenorhabditis elegans , 2004, Proceedings of the Royal Society of London. Series B: Biological Sciences.
[56] Albert Y Lau,et al. Functional classification of proteins and protein variants. , 2004, Proceedings of the National Academy of Sciences of the United States of America.
[57] [Analysis, identification and correction of some errors of model refseqs appeared in NCBI Human Gene Database by in silico cloning and experimental verification of novel human genes]. , 2004, Yi chuan xue bao = Acta genetica Sinica.
[58] M. Daly,et al. Genome-wide association studies for common diseases and complex traits , 2005, Nature Reviews Genetics.
[59] H. Shill,et al. BDNF genetic variants are associated with onset age of familial Parkinson disease: GenePD Study , 2005, Neurology.
[60] M. Olivier. A haplotype map of the human genome , 2003, Nature.
[61] M. Olivier. A haplotype map of the human genome. , 2003, Nature.
[62] D. Hunter. Gene–environment interactions in human diseases , 2005, Nature Reviews Genetics.
[63] D. Postma,et al. Polymorphisms in SPINK5 are not associated with asthma in a Dutch population. , 2005, The Journal of allergy and clinical immunology.
[64] G. Church,et al. The Personal Genome Project , 2005, Molecular systems biology.
[65] Peng Yue,et al. SNPs3D: Candidate gene and SNP selection for association studies , 2006, BMC Bioinformatics.
[66] Ryan D. Hernandez,et al. Natural selection on protein-coding genes in the human genome , 2005, Nature.
[67] Jean L. Chang,et al. Initial sequence of the chimpanzee genome and comparison with the human genome , 2005, Nature.
[68] Deborah A Nickerson,et al. Comprehensive identification and characterization of diallelic insertion-deletion polymorphisms in 330 human candidate genes. , 2005, Human molecular genetics.
[69] Modesto Orozco,et al. PMUT: a web-based tool for the annotation of pathological mutations on proteins , 2005, Bioinform..
[70] Elizabeth Pennisi. Genomics. On your mark. Get set. Sequence! , 2006, Science.
[71] Ryan E. Mills,et al. An initial map of insertion and deletion (INDEL) variation in the human genome. , 2006, Genome research.
[72] Laurent Excoffier,et al. Conserved noncoding sequences are selectively constrained and not mutation cold spots , 2006, Nature Genetics.
[73] S. Henikoff,et al. Predicting the effects of amino acid substitutions on protein function. , 2006, Annual review of genomics and human genetics.
[74] Matthew Stephens,et al. Automating resequencing-based detection of insertion-deletion polymorphisms , 2006, Nature Genetics.
[75] J. Hauser,et al. Illness-specific association of val66met BDNF polymorphism with performance on Wisconsin Card Sorting Test in bipolar mood disorder , 2006, Molecular Psychiatry.
[76] Elizabeth Pennisi. On Your Mark. Get Set. Sequence! , 2006, Science.
[77] H. Yamasue,et al. No evidence for an association between the BDNF Val66Met polymorphism and schizophrenia or personality traits , 2006, Schizophrenia Research.
[78] Bassem A. Hassan,et al. Gene prioritization through genomic data fusion , 2006, Nature Biotechnology.
[79] Jonathan C. Cohen,et al. Multiple rare variants in NPC1L1 associated with reduced sterol absorption and plasma low-density lipoprotein levels. , 2006, Proceedings of the National Academy of Sciences of the United States of America.
[80] James A. Cuff,et al. Distinguishing protein-coding and noncoding genes in the human genome , 2007, Proceedings of the National Academy of Sciences.
[81] Jay Shendure,et al. Multiplex amplification of large sets of human exons , 2007, Nature Methods.
[82] R. Hayes,et al. Functional Variant of Manganese Superoxide Dismutase (SOD2 V16A) Polymorphism Is Associated with Prostate Cancer Risk in the Prostate, Lung, Colorectal, and Ovarian Cancer Study , 2007, Cancer Epidemiology Biomarkers & Prevention.
[83] David T. Okou,et al. Microarray-based genomic selection for high-throughput resequencing , 2007, Nature Methods.
[84] R. Marais,et al. Melanoma biology and new targeted therapy , 2007, Nature.
[85] Timothy B. Stockwell,et al. The Diploid Genome Sequence of an Individual Human , 2007, PLoS biology.
[86] G. Weinstock,et al. Direct selection of human genomic loci by microarray hybridization , 2007, Nature Methods.
[87] Judy H Cho,et al. Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis , 2007, Nature Genetics.
[88] A. Sparks,et al. The Genomic Landscapes of Human Breast and Colorectal Cancers , 2007, Science.
[89] Kari Stefansson,et al. A common variant on chromosome 9p21 affects the risk of myocardial infarction. , 2007, Science.
[90] M. Jarvelin,et al. A Common Variant in the FTO Gene Is Associated with Body Mass Index and Predisposes to Childhood and Adult Obesity , 2007, Science.
[91] Colin N. Dewey,et al. Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome. , 2007, Genome research.
[92] N. Blow. Genomics: The personal side of genomics , 2007, Nature.
[93] M. Olson. Enrichment of super-sized resequencing targets from the human genome , 2007, Nature Methods.
[94] Christian Gieger,et al. Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions , 2007, Nature Genetics.
[95] Marcia M. Nizzari,et al. Genome-Wide Association Analysis Identifies Loci for Type 2 Diabetes and Triglyceride Levels , 2007, Science.
[96] Simon C. Potter,et al. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls , 2007, Nature.
[97] Gail Javitt,et al. ASHG Statement* on Direct-to-Consumer Genetic Testing in the United States , 2007, Obstetrics and gynecology.
[98] Zhaohui S. Qin,et al. A second generation human haplotype map of over 3.1 million SNPs , 2007, Nature.
[99] G. Abecasis,et al. A Genome-Wide Association Study of Type 2 Diabetes in Finns Detects Multiple Susceptibility Variants , 2007, Science.
[100] M J Wright,et al. Effect of the BDNF V166M polymorphism on working memory in healthy adolescents , 2007, Genes, brain, and behavior.
[101] J. Lupski,et al. The complete genome of an individual by massively parallel DNA sequencing , 2008, Nature.
[102] K. Mossman. The Wellcome Trust Case Control Consortium, U.K. , 2008 .
[103] Muin J Khoury,et al. A critical appraisal of the scientific basis of commercial genomic profiles used to assess health risks and personalize health interventions. , 2008, American journal of human genetics.
[104] Muin J. Khoury,et al. Letting the genome out of the bottle--will we get our wish? , 2008, The New England journal of medicine.