标题
A copy number variation map of the human genome
作者
关键词
-
出版物
NATURE REVIEWS GENETICS
Volume 16, Issue 3, Pages 172-183
出版商
Springer Nature
发表日期
2015-02-03
DOI
10.1038/nrg3871
参考文献
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注意：仅列出部分参考文献，下载原文获取全部文献信息。- Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders
- (2014) Ian M. Campbell et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders
- (2014) Dalila Pinto et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Adult neuropsychiatric expression and familial segregation of 2q13 duplications
- (2014) Gregory Costain et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
- Development of a high-resolution Y-chromosome microarray for improved male infertility diagnosis
- (2014) Ryan K.C. Yuen et al. FERTILITY AND STERILITY
- Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes
- (2014) A. C. Lionel et al. HUMAN MOLECULAR GENETICS
- Comparative analysis of the transcriptome across distant species
- (2014) Mark B. Gerstein et al. NATURE
- Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder
- (2014) Mohammed Uddin et al. NATURE GENETICS
- Resolving genomic disorder–associated breakpoints within segmental DNA duplications using massively parallel sequencing
- (2014) Xander Nuttle et al. Nature Protocols
- Deep Whole-Genome Sequencing of 100 Southeast Asian Malays
- (2013) Lai-Ping Wong et al. AMERICAN JOURNAL OF HUMAN GENETICS
- CEG: a database of essential gene clusters
- (2013) Yuan-Nong Ye et al. BMC GENOMICS
- KIR3DS1/L1 and HLA-Bw4-80I are associated with HIV disease progression among HIV typical progressors and long-term nonprogressors
- (2013) Yongjun Jiang et al. BMC INFECTIOUS DISEASES
- The Database of Genomic Variants: a curated collection of structural variation in the human genome
- (2013) Jeffrey R. MacDonald et al. NUCLEIC ACIDS RESEARCH
- Genome-wide deserts for copy number variation in vertebrates
- (2013) Takashi Makino et al. Nature Communications
- Performance of High-Throughput Sequencing for the Discovery of Genetic Variation Across the Complete Size Spectrum
- (2013) Andy Wing Chun Pang et al. G3-Genes Genomes Genetics
- Duplication and Retention Biases of Essential and Non-Essential Genes Revealed by Systematic Knockdown Analyses
- (2013) Shane Woods et al. PLoS Genetics
- Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes
- (2013) Slavé Petrovski et al. PLoS Genetics
- Age-Related Somatic Structural Changes in the Nuclear Genome of Human Blood Cells
- (2012) Lars A. Forsberg et al. AMERICAN JOURNAL OF HUMAN GENETICS
- DELISHUS: an efficient and exact algorithm for genome-wide detection of deletion polymorphism in autism
- (2012) Derek Aguiar et al. BIOINFORMATICS
- CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics
- (2012) Dheeraj Malhotra et al. CELL
- Correlating Multiallelic Copy Number Polymorphisms with Disease Susceptibility
- (2012) Stuart Cantsilieris et al. HUMAN MUTATION
- Diagnostic interpretation of array data using public databases and internet sources
- (2012) Nicole de Leeuw et al. HUMAN MUTATION
- An Abundance of Rare Functional Variants in 202 Drug Target Genes Sequenced in 14,002 People
- (2012) M. R. Nelson et al. SCIENCE
- A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes
- (2012) D. G. MacArthur et al. SCIENCE
- Investigation of pseudogenes RHDΨ and RHD -CE-D hybrid gene in D-negative blood donors by the real time PCR method
- (2012) Alexandre Szulman et al. TRANSFUSION AND APHERESIS SCIENCE
- Exploring the role of copy number variants in human adaptation
- (2012) Rebecca C. Iskow et al. TRENDS IN GENETICS
- Population-Genetic Properties of Differentiated Human Copy-Number Polymorphisms
- (2011) Catarina D. Campbell et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Towards an evidence-based process for the clinical interpretation of copy number variation
- (2011) ER Riggs et al. CLINICAL GENETICS
- Large common deletions associate with mortality at old age
- (2011) Maris Kuningas et al. HUMAN MOLECULAR GENETICS
- Characterization of copy number-stable regions in the human genome
- (2011) Anna C.V. Johansson et al. HUMAN MUTATION
- Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus
- (2011) Sébastien Jacquemont et al. NATURE
- Mapping copy number variation by population-scale genome sequencing
- (2011) Ryan E. Mills et al. NATURE
- Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants
- (2011) Dalila Pinto et al. NATURE BIOTECHNOLOGY
- Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
- (2010) David T. Miller et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Structural Variation in the Human Genome and its Role in Disease
- (2010) Paweł Stankiewicz et al. Annual Review of Medicine
- The impact of human copy number variation on a new era of genetic testing
- (2010) KW Choy et al. BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY
- The clinical context of copy number variation in the human genome
- (2010) Charles Lee et al. EXPERT REVIEWS IN MOLECULAR MEDICINE
- Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls
- (2010) NATURE
- Functional impact of global rare copy number variation in autism spectrum disorders
- (2010) Dalila Pinto et al. NATURE
- A map of human genome variation from population-scale sequencing
- (2010) Richard M. Durbin et al. NATURE
- Public data archives for genomic structural variation
- (2010) Deanna M Church et al. NATURE GENETICS
- Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing
- (2010) Hansoo Park et al. NATURE GENETICS
- Enrichment Map: A Network-Based Method for Gene-Set Enrichment Visualization and Interpretation
- (2010) Daniele Merico et al. PLoS One
- Diversity of Human Copy Number Variation and Multicopy Genes
- (2010) Peter H. Sudmant et al. SCIENCE
- Characterising and Predicting Haploinsufficiency in the Human Genome
- (2010) Ni Huang et al. PLoS Genetics
- Towards a comprehensive structural variation map of an individual human genome
- (2010) Andy W Pang et al. GENOME BIOLOGY
- Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease
- (2009) Andy Itsara et al. AMERICAN JOURNAL OF HUMAN GENETICS
- DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources
- (2009) Helen V. Firth et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Duplication hotspots, rare genomic disorders, and common disease
- (2009) Heather C Mefford et al. CURRENT OPINION IN GENETICS & DEVELOPMENT
- Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding
- (2009) K. J. McKernan et al. GENOME RESEARCH
- Origins and functional impact of copy number variation in the human genome
- (2009) Donald F. Conrad et al. NATURE
- Personalized copy number and segmental duplication maps using next-generation sequencing
- (2009) Can Alkan et al. NATURE GENETICS
- Mechanisms of change in gene copy number
- (2009) P. J. Hastings et al. NATURE REVIEWS GENETICS
- Human olfaction: from genomic variation to phenotypic diversity
- (2009) Yehudit Hasin-Brumshtein et al. TRENDS IN GENETICS
- Genome-wide Copy-Number-Variation Study Identified a Susceptibility Gene, UGT2B17, for Osteoporosis
- (2008) Tie-Lin Yang et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Natural Selection on Genes that Underlie Human Disease Susceptibility
- (2008) Ran Blekhman et al. CURRENT BIOLOGY
- Contemplating effects of genomic structural variation
- (2008) Janet A Buchanan et al. GENETICS IN MEDICINE
- Reduced purifying selection prevails over positive selection in human copy number variant evolution
- (2008) D.-Q. Nguyen et al. GENOME RESEARCH
- Mapping and sequencing of structural variation from eight human genomes
- (2008) Jeffrey M. Kidd et al. NATURE
- Integrated detection and population-genetic analysis of SNPs and copy number variation
- (2008) Steven A McCarroll et al. NATURE GENETICS
- The functional impact of structural variation in humans
- (2008) Matthew E. Hurles et al. TRENDS IN GENETICS
- Genetic Variation in an Individual Human Exome
- (2008) Pauline C. Ng et al. PLoS Genetics
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