Copy number variation analysis in the context of electronic medical records and large-scale genomics consortium efforts
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Title
Copy number variation analysis in the context of electronic medical records and large-scale genomics consortium efforts
Authors
Keywords
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Journal
Frontiers in Genetics
Volume 5, Issue -, Pages -
Publisher
Frontiers Media SA
Online
2014-03-18
DOI
10.3389/fgene.2014.00051
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Note: Only part of the references are listed.- Deletion 16p13.11 uncoversNDE1mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption
- (2013) Alex R. Paciorkowski et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Genome- and Phenome-Wide Analyses of Cardiac Conduction Identifies Markers of Arrhythmia Risk
- (2013) Marylyn D. Ritchie et al. CIRCULATION
- Pathogenic or not? Assessing the clinical relevance of copy number variants
- (2013) JY Hehir-Kwa et al. CLINICAL GENETICS
- 263.4 kb deletion within the TCF4 gene consistent with Pitt–Hopkins syndrome, inherited from a mosaic parent with normal phenotype
- (2013) Ludmila Kousoulidou et al. European Journal of Medical Genetics
- ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
- (2013) Robert C. Green et al. GENETICS IN MEDICINE
- The Electronic Medical Records and Genomics (eMERGE) Network: past, present and future
- (2013) Omri Gottesman et al. GENETICS IN MEDICINE
- Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles
- (2013) P. M. Boone et al. GENOME RESEARCH
- A genomic view of mosaicism and human disease
- (2013) Leslie G. Biesecker et al. NATURE REVIEWS GENETICS
- ParseCNV integrative copy number variation association software with quality tracking
- (2013) Joseph T. Glessner et al. NUCLEIC ACIDS RESEARCH
- Confirmation of the Reported Association of Clonal Chromosomal Mosaicism with an Increased Risk of Incident Hematologic Cancer
- (2013) Ursula M. Schick et al. PLoS One
- Copy Number Variations in Alternative Splicing Gene Networks Impact Lifespan
- (2013) Joseph T. Glessner et al. PLoS One
- Copy Number Variation Analysis in Familial BRCA1/2-Negative Finnish Breast and Ovarian Cancer
- (2013) Kirsi M. Kuusisto et al. PLoS One
- Republished: Non-heritable genetics of human disease: spotlight on post-zygotic genetic variation acquired during lifetime
- (2013) Lars Anders Forsberg et al. POSTGRADUATE MEDICAL JOURNAL
- Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth
- (2012) Menachem Fromer et al. AMERICAN JOURNAL OF HUMAN GENETICS
- CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics
- (2012) Dheeraj Malhotra et al. CELL
- High Density GWAS for LDL Cholesterol in African Americans Using Electronic Medical Records Reveals a Strong Protective Variant inAPOE
- (2012) Laura J. Rasmussen-Torvik et al. CTS-Clinical and Translational Science
- Detectable clonal mosaicism from birth to old age and its relationship to cancer
- (2012) Cathy C Laurie et al. NATURE GENETICS
- De Novo Gene Disruptions in Children on the Autistic Spectrum
- (2012) Ivan Iossifov et al. NEURON
- dbVar and DGVa: public archives for genomic structural variation
- (2012) Ilkka Lappalainen et al. NUCLEIC ACIDS RESEARCH
- The Impact of Genomics on Pediatric Research and Medicine
- (2012) J. J. Connolly et al. PEDIATRICS
- Current analysis platforms and methods for detecting copy number variation
- (2012) Wenli Li et al. PHYSIOLOGICAL GENOMICS
- Negative Allosteric Modulation of the mGluR5 Receptor Reduces Repetitive Behaviors and Rescues Social Deficits in Mouse Models of Autism
- (2012) J. L. Silverman et al. Science Translational Medicine
- cnvHiTSeq: integrative models for high-resolution copy number variation detection and genotyping using population sequencing data
- (2012) Evangelos Bellos et al. GENOME BIOLOGY
- Common structural features characterize interstitial intrachromosomal Xp and 18q triplications
- (2011) Roberto Giorda et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Pitfalls in the use of DGV for CNV interpretation
- (2011) Aude Duclos et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Genome-Wide Analysis of Copy Number Variants in Attention Deficit Hyperactivity Disorder: The Role of Rare Variants and Duplications at 15q13.3
- (2011) Nigel M. Williams et al. AMERICAN JOURNAL OF PSYCHIATRY
- LINE-1 Elements in Structural Variation and Disease
- (2011) Christine R. Beck et al. Annual Review of Genomics and Human Genetics
- Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems
- (2011) Trilochan Sahoo et al. GENETICS IN MEDICINE
- Disclosing pathogenic genetic variants to research participants: Quantifying an emerging ethical responsibility
- (2011) C. A. Cassa et al. GENOME RESEARCH
- CNVnator: An approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing
- (2011) A. Abyzov et al. GENOME RESEARCH
- Genetic variants associated with the white blood cell count in 13,923 subjects in the eMERGE Network
- (2011) David R. Crosslin et al. HUMAN GENETICS
- Mapping copy number variation by population-scale genome sequencing
- (2011) Ryan E. Mills et al. NATURE
- Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder
- (2011) Josephine Elia et al. NATURE GENETICS
- Discovery and genotyping of genome structural polymorphism by sequencing on a population scale
- (2011) Robert E Handsaker et al. NATURE GENETICS
- A copy number variation morbidity map of developmental delay
- (2011) Gregory M Cooper et al. NATURE GENETICS
- Genome-Wide Mapping of Copy Number Variation in Humans: Comparative Analysis of High Resolution Array Platforms
- (2011) Rajini R. Haraksingh et al. PLoS One
- Microdeletions and Microduplications in Patients with Congenital Heart Disease and Multiple Congenital Anomalies
- (2011) Elizabeth Goldmuntz et al. Congenital Heart Disease
- Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes
- (2011) Santhosh Girirajan et al. PLoS Genetics
- Enhanced structural variant and breakpoint detection using SVMerge by integration of multiple detection methods and local assembly
- (2011) Kim Wong et al. GENOME BIOLOGY
- A Genome-wide Study Reveals Copy Number Variants Exclusive to Childhood Obesity Cases
- (2010) Joseph T. Glessner et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Ethical and Practical Guidelines for Reporting Genetic Research Results to Study Participants
- (2010) Richard R. Fabsitz et al. Circulation-Cardiovascular Genetics
- De novo rates and selection of large copy number variation
- (2010) A. Itsara et al. GENOME RESEARCH
- Detecting copy number variation with mated short reads
- (2010) P. Medvedev et al. GENOME RESEARCH
- 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 recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
- (2010) Santhosh Girirajan et al. NATURE GENETICS
- Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy
- (2010) James R. Lupski et al. NEW ENGLAND JOURNAL OF MEDICINE
- MixHMM: Inferring Copy Number Variation and Allelic Imbalance Using SNP Arrays and Tumor Samples Mixed with Stromal Cells
- (2010) Zongzhi Liu et al. PLoS One
- Duplication of the SLIT3 Locus on 5q35.1 Predisposes to Major Depressive Disorder
- (2010) Joseph T. Glessner et al. PLoS One
- Strong synaptic transmission impact by copy number variations in schizophrenia
- (2010) J. T. Glessner et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Towards a comprehensive structural variation map of an individual human genome
- (2010) Andy W Pang et al. GENOME BIOLOGY
- CNV-seq, a new method to detect copy number variation using high-throughput sequencing
- (2009) Chao Xie et al. BMC BIOINFORMATICS
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- (2009) S. Yoon et al. GENOME RESEARCH
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- (2009) J Knijnenburg et al. JOURNAL OF MEDICAL GENETICS
- Autism genome-wide copy number variation reveals ubiquitin and neuronal genes
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- Microduplications of 16p11.2 are associated with schizophrenia
- (2009) Shane E McCarthy et al. NATURE GENETICS
- The impact of retrotransposons on human genome evolution
- (2009) Richard Cordaux et al. NATURE REVIEWS GENETICS
- Genome-Wide Analyses of Exonic Copy Number Variants in a Family-Based Study Point to Novel Autism Susceptibility Genes
- (2009) Maja Bucan et al. PLoS Genetics
- PEMer: a computational framework with simulation-based error models for inferring genomic structural variants from massive paired-end sequencing data
- (2009) Jan O Korbel et al. GENOME BIOLOGY
- The Fine-Scale and Complex Architecture of Human Copy-Number Variation
- (2008) George H. Perry et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Structural Variation of Chromosomes in Autism Spectrum Disorder
- (2008) Christian R. Marshall et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Psychosis and autism as diametrical disorders of the social brain
- (2008) Bernard Crespi et al. BEHAVIORAL AND BRAIN SCIENCES
- Sparse representation and Bayesian detection of genome copy number alterations from microarray data
- (2008) Roger Pique-Regi et al. BIOINFORMATICS
- Mapping and sequencing of structural variation from eight human genomes
- (2008) Jeffrey M. Kidd et al. NATURE
- Association between Microdeletion and Microduplication at 16p11.2 and Autism
- (2008) Lauren A. Weiss et al. NEW ENGLAND JOURNAL OF MEDICINE
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