Challenges and standards in integrating surveys of structural variation
暂无分享,去创建一个
E. Birney | L. Feuk | N. Carter | Charles Lee | S. Scherer | M. Hurles | E. Eichler | D. Altshuler
[1] Iscn. International System for Human Cytogenetic Nomenclature , 1978 .
[2] D. Harnden,et al. An international system for human cytogenetic nomenclature (1985) : ISCN (1985) : report of the Standing Committee on Human Cytogenetic Nomenclature , 1985 .
[3] Aravinda Chakravarti,et al. DNA duplication associated with Charcot-Marie-Tooth disease type 1A , 1991, Cell.
[4] S. Pathak,et al. Trisomy 12 in Epstein-Barr virus-transformed lymphoblastoid cell lines of normal individuals and patients with nonhematologic malignancies. , 1992, Cancer genetics and cytogenetics.
[5] Patricia Spallone,et al. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome , 1993, Nature Genetics.
[6] J. Lupski,et al. Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17. , 1994, Human molecular genetics.
[7] E. Lander,et al. Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results , 1995, Nature Genetics.
[8] Y. Benjamini,et al. Controlling the false discovery rate: a practical and powerful approach to multiple testing , 1995 .
[9] Genetic nomenclature: ISCN and ISGN. , 1996, Pediatric hematology and oncology.
[10] A. C. Chinault,et al. Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome , 1997, Nature Genetics.
[11] S. Warren,et al. Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats , 1997, Nature Genetics.
[12] B. Emanuel,et al. Progress in the autosomal segmental aneusomy syndromes (SASs): single or multi-locus disorders? , 1997, Human molecular genetics.
[13] G. D. Wilson,et al. An SNP map of human chromosome 22 , 2000, Nature.
[14] Eric S. Lander,et al. An SNP map of the human genome generated by reduced representation shotgun sequencing , 2000, Nature.
[15] L. Shaffer,et al. Molecular mechanism for duplication 17p11.2— the homologous recombination reciprocal of the Smith-Magenis microdeletion , 2000, Nature Genetics.
[16] S. Antonarakis,et al. Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion , 2000 .
[17] M. Daly,et al. A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms , 2001, Nature.
[18] Jason E. Stewart,et al. Minimum information about a microarray experiment (MIAME)—toward standards for microarray data , 2001, Nature Genetics.
[19] B. Trask,et al. Segmental duplications: organization and impact within the current human genome project assembly. , 2001, Genome research.
[20] J. R. MacDonald,et al. Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence , 2003, Genome Biology.
[21] M. Adams,et al. Recent Segmental Duplications in the Human Genome , 2002, Science.
[22] Kazuho Ikeo,et al. CIBEX: center for information biology gene expression database. , 2003, Comptes rendus biologies.
[23] Ton Feuth,et al. Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities. , 2003, American journal of human genetics.
[24] 黒滝 直弘. 私の論文から Haploinsufficiency of NSD1 causes Sotos syndrome , 2003 .
[25] M Bobrow,et al. Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features , 2004, Journal of Medical Genetics.
[26] Cheng Li,et al. dChipSNP: significance curve and clustering of SNP-array-based loss-of-heterozygosity data , 2004, Bioinform..
[27] Kenny Q. Ye,et al. Large-Scale Copy Number Polymorphism in the Human Genome , 2004, Science.
[28] Randall A. Bolanos,et al. Whole-genome shotgun assembly and comparison of human genome assemblies , 2004, Proceedings of the National Academy of Sciences of the United States of America.
[29] E. Lander,et al. Finishing the euchromatic sequence of the human genome , 2004 .
[30] J. Bonfield,et al. Finishing the euchromatic sequence of the human genome , 2004, Nature.
[31] J. Shendure,et al. Advanced sequencing technologies: methods and goals , 2004, Nature Reviews Genetics.
[32] E. Eichler,et al. BAC microarray analysis of 15q11–q13 rearrangements and the impact of segmental duplications , 2004, Journal of Medical Genetics.
[33] L. Feuk,et al. Detection of large-scale variation in the human genome , 2004, Nature Genetics.
[34] E. Eichler,et al. Segmental duplications and copy-number variation in the human genome. , 2005, American journal of human genetics.
[35] Ton Feuth,et al. Diagnostic genome profiling in mental retardation. , 2005, American journal of human genetics.
[36] E. Eichler,et al. Fine-scale structural variation of the human genome , 2005, Nature Genetics.
[37] Clive Brown,et al. Toward the $1000 human genome , 2005 .
[38] Shigeru Chiba,et al. A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays. , 2005, Cancer research.
[39] Evan E Eichler,et al. Widening the spectrum of human genetic variation , 2006, Nature Genetics.
[40] L. Feuk,et al. Development of bioinformatics resources for display and analysis of copy number and other structural variants in the human genome , 2006, Cytogenetic and Genome Research.
[41] R. Redon,et al. Copy Number Variation: New Insights in Genome Diversity References , 2006 .
[42] Andrew J Sharp,et al. Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome , 2006, Nature Genetics.
[43] Ryan E. Mills,et al. An initial map of insertion and deletion (INDEL) variation in the human genome. , 2006, Genome research.
[44] D. Conrad,et al. A high-resolution survey of deletion polymorphism in the human genome , 2006, Nature Genetics.
[45] D. Conrad,et al. Global variation in copy number in the human genome , 2006, Nature.
[46] J. Lupski,et al. Genomic Rearrangements and Gene Copy-Number Alterations as a Cause of Nervous System Disorders , 2006, Neuron.
[47] E. Eichler,et al. Primate segmental duplications: crucibles of evolution, diversity and disease , 2006, Nature Reviews Genetics.
[48] R. Service. The Race for the $1000 Genome , 2006, Science.
[49] K. Frazer,et al. Common deletions and SNPs are in linkage disequilibrium in the human genome , 2006, Nature Genetics.
[50] R. Redon,et al. Genome assembly comparison identifies structural variants in the human genome , 2006, Nature Genetics.
[51] Nigel P. Carter,et al. Accurate and reliable high-throughput detection of copy number variation in the human genome. , 2006, Genome research.
[52] Andrew J Lees,et al. Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability , 2006, Nature Genetics.
[53] L. Feuk,et al. Structural variants: changing the landscape of chromosomes and design of disease studies. , 2006, Human molecular genetics.
[54] Alexander Eckehart Urban,et al. High-resolution mapping of DNA copy alterations in human chromosome 22 using high-density tiling oligonucleotide arrays. , 2006, Proceedings of the National Academy of Sciences of the United States of America.
[55] Charles Lee,et al. Genome-wide detection of human copy number variations using high-density DNA oligonucleotide arrays. , 2006, Genome research.
[56] Pardis C Sabeti,et al. Common deletion polymorphisms in the human genome , 2006, Nature Genetics.
[57] Lars Feuk,et al. Strategies for the detection of copy number and other structural variants in the human genome , 2006, Human Genomics.
[58] R. Pfundt,et al. A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism , 2006, Nature Genetics.
[59] D. Bentley,et al. Whole-genome re-sequencing. , 2006, Current opinion in genetics & development.
[60] E. Eichler,et al. Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome. , 2006, American journal of human genetics.
[61] Lyle D Burgoon,et al. The need for standards, not guidelines, in biological data reporting and sharing , 2006, Nature Biotechnology.
[62] Thomas Bourgeron,et al. Mapping autism risk loci using genetic linkage and chromosomal rearrangements , 2007, Nature Genetics.
[63] C. Yau,et al. QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data , 2007, Nucleic acids research.
[64] Matthew E Hurles,et al. The population genetics of structural variation , 2007, Nature Genetics.
[65] E. Eichler,et al. Mutational and selective effects on copy-number variants in the human genome , 2007, Nature Genetics.
[66] Charles Lee,et al. Copy number variations and clinical cytogenetic diagnosis of constitutional disorders , 2007, Nature Genetics.
[67] Dennis B. Troup,et al. NCBI GEO: mining tens of millions of expression profiles—database and tools update , 2006, Nucleic Acids Res..
[68] G. K. Vostokin,et al. Chemical characterization of element 112 , 2007, Nature.
[69] Helen E. Parkinson,et al. ArrayExpress—a public database of microarray experiments and gene expression profiles , 2006, Nucleic Acids Res..
[70] S. Mccarroll,et al. Copy-number variation and association studies of human disease , 2007, Nature Genetics.
[71] Carolyn J. Brown,et al. A comprehensive analysis of common copy-number variations in the human genome. , 2007, American journal of human genetics.
[72] N. Carter. Methods and strategies for analyzing copy number variation using DNA microarrays , 2007, Nature Genetics.
[73] D. Altshuler,et al. Completing the map of human genetic variation , 2007, Nature.
[74] Sonja W. Scholz,et al. Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals. , 2007, Human molecular genetics.
[75] Yong-shu He,et al. [Structural variation in the human genome]. , 2009, Yi chuan = Hereditas.