标题
Somatic Mosaicism in the Human Genome
作者
关键词
-
出版物
Genes
Volume 5, Issue 4, Pages 1064-1094
出版商
MDPI AG
发表日期
2014-12-11
DOI
10.3390/genes5041064
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Mutations and Deregulation of Ras/Raf/MEK/ERK and PI3K/PTEN/Akt/mTOR Cascades
- (2015) James Andrew McCubrey et al. Oncotarget
- Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders
- (2014) Ian M. Campbell et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Toward better understanding of artifacts in variant calling from high-coverage samples
- (2014) Heng Li BIOINFORMATICS
- Subclonal variant calling with multiple samples and prior knowledge
- (2014) M. Gerstung et al. BIOINFORMATICS
- An assessment of computational methods for estimating purity and clonality using genomic data derived from heterogeneous tumor tissue samples
- (2014) V. K. Yadav et al. BRIEFINGS IN BIOINFORMATICS
- Recent advances in the study of somatic mosaicism and diseases other than cancer
- (2014) Robert P Erickson CURRENT OPINION IN GENETICS & DEVELOPMENT
- The origin, mechanisms, incidence and clinical consequences of chromosomal mosaicism in humans
- (2014) Tyl H. Taylor et al. HUMAN REPRODUCTION UPDATE
- Haplotype Counting by Next-Generation Sequencing for Ultrasensitive Human DNA Detection
- (2014) Marija Debeljak et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- Synaptic, transcriptional and chromatin genes disrupted in autism
- (2014) Silvia De Rubeis et al. NATURE
- Clonal evolution in breast cancer revealed by single nucleus genome sequencing
- (2014) Yong Wang et al. NATURE
- The contribution of de novo coding mutations to autism spectrum disorder
- (2014) Ivan Iossifov et al. NATURE
- Most genetic risk for autism resides with common variation
- (2014) Trent Gaugler et al. NATURE GENETICS
- Fast, accurate reconstruction of cell lineages from large-scale fluorescence microscopy data
- (2014) Fernando Amat et al. NATURE METHODS
- PI3K and cancer: lessons, challenges and opportunities
- (2014) David A. Fruman et al. NATURE REVIEWS DRUG DISCOVERY
- Expanding the computational toolbox for mining cancer genomes
- (2014) Li Ding et al. NATURE REVIEWS GENETICS
- Understanding nucleotide excision repair and its roles in cancer and ageing
- (2014) Jurgen A. Marteijn et al. NATURE REVIEWS MOLECULAR CELL BIOLOGY
- Patches of Disorganization in the Neocortex of Children with Autism
- (2014) Rich Stoner et al. NEW ENGLAND JOURNAL OF MEDICINE
- Somatic Mutations in Cerebral Cortical Malformations
- (2014) Saumya S. Jamuar et al. NEW ENGLAND JOURNAL OF MEDICINE
- Distinct synthetic A prion strains producing different amyloid deposits in bigenic mice
- (2014) J. Stohr et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Serial propagation of distinct strains of A prions from Alzheimer's disease patients
- (2014) J. C. Watts et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- A de novo convergence of autism genetics and molecular neuroscience
- (2014) Niklas Krumm et al. TRENDS IN NEUROSCIENCES
- Single-Cell, Genome-wide Sequencing Identifies Clonal Somatic Copy-Number Variation in the Human Brain
- (2014) Xuyu Cai et al. Cell Reports
- Patterns of Somatically Acquired Amplifications and Deletions in Apparently Normal Tissues of Ovarian Cancer Patients
- (2014) Leila Aghili et al. Cell Reports
- LUMPY: a probabilistic framework for structural variant discovery
- (2014) Ryan M Layer et al. GENOME BIOLOGY
- Precise inference of copy number alterations in tumor samples from SNP arrays
- (2013) Gary K. Chen et al. BIOINFORMATICS
- CoNVEX: copy number variation estimation in exome sequencing data using HMM
- (2013) Kaushalya C Amarasinghe et al. BMC BIOINFORMATICS
- Sensitive and specific detection of mosaic chromosomal abnormalities using the Parent-of-Origin-based Detection (POD) method
- (2013) Joseph D Baugher et al. BMC GENOMICS
- Molecular Structure of β-Amyloid Fibrils in Alzheimer’s Disease Brain Tissue
- (2013) Jun-Xia Lu et al. CELL
- The balancing act of DNA repeat expansions
- (2013) Jane C Kim et al. CURRENT OPINION IN GENETICS & DEVELOPMENT
- Brain somatic mutations: the dark matter of psychiatric genetics?
- (2013) T R Insel MOLECULAR PSYCHIATRY
- Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples
- (2013) Kristian Cibulskis et al. NATURE BIOTECHNOLOGY
- Single-cell sequencing-based technologies will revolutionize whole-organism science
- (2013) Ehud Shapiro et al. NATURE REVIEWS GENETICS
- Emerging patterns of somatic mutations in cancer
- (2013) Ian R. Watson et al. NATURE REVIEWS GENETICS
- Sturge–Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ
- (2013) Matthew D. Shirley et al. NEW ENGLAND JOURNAL OF MEDICINE
- SomatiCA: Identifying, Characterizing and Quantifying Somatic Copy Number Aberrations from Cancer Genome Sequencing Data
- (2013) Mengjie Chen et al. PLoS One
- Mosaic Copy Number Variation in Human Neurons
- (2013) M. J. McConnell et al. SCIENCE
- Cancer Genome Landscapes
- (2013) B. Vogelstein et al. SCIENCE
- Somatic Mutation, Genomic Variation, and Neurological Disease
- (2013) A. Poduri et al. SCIENCE
- The genomically mosaic brain: Aneuploidy and more in neural diversity and disease
- (2013) Diane M. Bushman et al. SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
- Somatic Mosaic Activating Mutations in PIK3CA Cause CLOVES Syndrome
- (2012) Kyle C. Kurek et al. AMERICAN JOURNAL OF HUMAN GENETICS
- JointSNVMix: a probabilistic model for accurate detection of somatic mutations in normal/tumour paired next-generation sequencing data
- (2012) Andrew Roth et al. BIOINFORMATICS
- Strelka: accurate somatic small-variant calling from sequenced tumor–normal sample pairs
- (2012) Christopher T. Saunders et al. BIOINFORMATICS
- Single-Neuron Sequencing Analysis of L1 Retrotransposition and Somatic Mutation in the Human Brain
- (2012) Gilad D. Evrony et al. CELL
- Single-Cell Exome Sequencing Reveals Single-Nucleotide Mutation Characteristics of a Kidney Tumor
- (2012) Xun Xu et al. CELL
- Single-Cell Exome Sequencing and Monoclonal Evolution of a JAK2-Negative Myeloproliferative Neoplasm
- (2012) Yong Hou et al. CELL
- Genomic Landscape of Non-Small Cell Lung Cancer in Smokers and Never-Smokers
- (2012) Ramaswamy Govindan et al. CELL
- Mechanisms for recurrent and complex human genomic rearrangements
- (2012) Pengfei Liu et al. CURRENT OPINION IN GENETICS & DEVELOPMENT
- Active human retrotransposons: variation and disease
- (2012) Dustin C Hancks et al. CURRENT OPINION IN GENETICS & DEVELOPMENT
- VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing
- (2012) D. C. Koboldt et al. GENOME RESEARCH
- Somatic copy number mosaicism in human skin revealed by induced pluripotent stem cells
- (2012) Alexej Abyzov et al. NATURE
- De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
- (2012) Jean-Baptiste Rivière et al. NATURE GENETICS
- De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly
- (2012) Jeong Ho Lee et al. NATURE GENETICS
- Detectable clonal mosaicism and its relationship to aging and cancer
- (2012) Kevin B Jacobs et al. NATURE GENETICS
- Detectable clonal mosaicism from birth to old age and its relationship to cancer
- (2012) Cathy C Laurie et al. NATURE GENETICS
- Genome-wide copy number analysis of single cells
- (2012) Timour Baslan et al. Nature Protocols
- Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations
- (2012) Annapurna Poduri et al. NEURON
- McCune-Albright syndrome and the extraskeletal manifestations of fibrous dysplasia
- (2012) Michael T Collins et al. Orphanet Journal of Rare Diseases
- Extensive genetic variation in somatic human tissues
- (2012) M. O'Huallachain et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Landscape of Somatic Retrotransposition in Human Cancers
- (2012) E. Lee et al. SCIENCE
- Advances in Whole-Genome Genetic Testing: From Chromosomes to Microarrays
- (2012) Patricia L. Crotwell et al. Current Problems in Pediatric and Adolescent Health Care
- SomaticSniper: identification of somatic point mutations in whole genome sequencing data
- (2011) David E. Larson et al. BIOINFORMATICS
- Control-FREEC: a tool for assessing copy number and allelic content using next-generation sequencing data
- (2011) Valentina Boeva et al. BIOINFORMATICS
- Hallmarks of Cancer: The Next Generation
- (2011) Douglas Hanahan et al. CELL
- Chromosome Analysis Using Spectral Karyotyping (SKY)
- (2011) George Imataka et al. CELL BIOCHEMISTRY AND BIOPHYSICS
- Valuing gene testing in children with possible neurofibromatosis 1
- (2011) E Tsang et al. CLINICAL GENETICS
- Chromosomal mosaicism in human preimplantation embryos: a systematic review
- (2011) Jannie van Echten-Arends et al. HUMAN REPRODUCTION UPDATE
- Somatic mutations in aging, cancer and neurodegeneration
- (2011) Scott R. Kennedy et al. MECHANISMS OF AGEING AND DEVELOPMENT
- Tumour evolution inferred by single-cell sequencing
- (2011) Nicholas Navin et al. NATURE
- Somatic retrotransposition alters the genetic landscape of the human brain
- (2011) J. Kenneth Baillie et al. NATURE
- Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome
- (2011) Twinkal C Pansuriya et al. NATURE GENETICS
- Genome structural variation discovery and genotyping
- (2011) Can Alkan et al. NATURE REVIEWS GENETICS
- A Mosaic Activating Mutation inAKT1Associated with the Proteus Syndrome
- (2011) Marjorie J. Lindhurst et al. NEW ENGLAND JOURNAL OF MEDICINE
- Direct, genome-wide assessment of DNA mutations in single cells
- (2011) Michael Gundry et al. NUCLEIC ACIDS RESEARCH
- GPHMM: an integrated hidden Markov model for identification of copy number alteration and loss of heterozygosity in complex tumor samples using whole genome SNP arrays
- (2011) Ao Li et al. NUCLEIC ACIDS RESEARCH
- Noninvasive Prenatal Diagnosis of Fetal Trisomy 18 and Trisomy 13 by Maternal Plasma DNA Sequencing
- (2011) Eric Z. Chen et al. PLoS One
- DNA repair deficiency in neurodegeneration
- (2011) Dennis Kjølhede Jeppesen et al. PROGRESS IN NEUROBIOLOGY
- An Activating Mutation of AKT2 and Human Hypoglycemia
- (2011) K. Hussain et al. SCIENCE
- Somatic mosaicism in healthy human tissues
- (2011) Subhajyoti De TRENDS IN GENETICS
- Mosaic Uniparental Disomies and Aneuploidies as Large Structural Variants of the Human Genome
- (2010) Benjamín Rodríguez-Santiago et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Monozygotic twins discordant for neurofibromatosis 1
- (2010) Lee Kaplan et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Somatic mosaicism in a case of apparently sporadic Creutzfeldt-Jakob disease carrying a de novo D178N mutation in the PRNP gene
- (2010) A. Alzualde et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
- An integrated Bayesian analysis of LOH and copy number data
- (2010) Paola MV Rancoita et al. BMC BIOINFORMATICS
- Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis
- (2010) Laura K. Conlin et al. HUMAN MOLECULAR GENETICS
- Somatic gene mutation and human disease other than cancer: An update
- (2010) Robert P. Erickson MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH
- Evaluating genome-scale approaches to eukaryotic DNA replication
- (2010) David M. Gilbert NATURE REVIEWS GENETICS
- Mechanisms of trinucleotide repeat instability during human development
- (2010) Cynthia T. McMurray NATURE REVIEWS GENETICS
- Tackling the widespread and critical impact of batch effects in high-throughput data
- (2010) Jeffrey T. Leek et al. NATURE REVIEWS GENETICS
- Mutations inGNA11in Uveal Melanoma
- (2010) Catherine D. Van Raamsdonk et al. NEW ENGLAND JOURNAL OF MEDICINE
- COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer
- (2010) S. A. Forbes et al. NUCLEIC ACIDS RESEARCH
- 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
- Mitotic Recombination in Patients with Ichthyosis Causes Reversion of Dominant Mutations in KRT10
- (2010) K. A. Choate et al. SCIENCE
- Human RECQ helicases: Roles in DNA metabolism, mutagenesis and cancer biology
- (2010) Raymond J. Monnat SEMINARS IN CANCER BIOLOGY
- Revertant mosaicism in skin: natural gene therapy
- (2010) Joey E. Lai-Cheong et al. TRENDS IN MOLECULAR MEDICINE
- Cytogenetic contribution to uniparental disomy (UPD)
- (2010) Thomas Liehr Molecular Cytogenetics
- Human interphase chromosomes: a review of available molecular cytogenetic technologies
- (2010) Svetlana G Vorsanova et al. Molecular Cytogenetics
- Continuous and Periodic Expansion of CAG Repeats in Huntington's Disease R6/1 Mice
- (2010) Linda Møllersen et al. PLoS Genetics
- The Sequence Alignment/Map format and SAMtools
- (2009) H. Li et al. BIOINFORMATICS
- Mechanics of T cell receptor gene rearrangement
- (2009) Michael S Krangel CURRENT OPINION IN IMMUNOLOGY
- Copy number variation and mosaicism
- (2009) A.J. Notini et al. CYTOGENETIC AND GENOME RESEARCH
- Sensitive and accurate detection of copy number variants using read depth of coverage
- (2009) S. Yoon et al. GENOME RESEARCH
- Finding the missing heritability of complex diseases
- (2009) Teri A. Manolio et al. NATURE
- L1 retrotransposition in human neural progenitor cells
- (2009) Nicole G. Coufal et al. NATURE
- Targeted capture and massively parallel sequencing of 12 human exomes
- (2009) Sarah B. Ng et al. NATURE
- The cancer genome
- (2009) Michael R. Stratton et al. NATURE
- Chromosome instability is common in human cleavage-stage embryos
- (2009) Evelyne Vanneste et al. NATURE MEDICINE
- DNA Damage, Aging, and Cancer
- (2009) Jan H.J. Hoeijmakers NEW ENGLAND JOURNAL OF MEDICINE
- The Sanger FASTQ file format for sequences with quality scores, and the Solexa/Illumina FASTQ variants
- (2009) Peter J. A. Cock et al. NUCLEIC ACIDS RESEARCH
- DNA polymerase and proofreading suppress discrete mutator and cancer phenotypes in mice
- (2009) T. M. Albertson et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Genetic diagnosis by whole exome capture and massively parallel DNA sequencing
- (2009) Murim Choi et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Somatic mosaicism for copy number variation in differentiated human tissues
- (2008) Arkadiusz Piotrowski et al. HUMAN MUTATION
- Tuberous sclerosis
- (2008) Paolo Curatolo et al. LANCET
- Tissue-specific accelerated aging in nucleotide excision repair deficiency
- (2008) Laura J. Niedernhofer MECHANISMS OF AGEING AND DEVELOPMENT
- Impact of whole genome amplification on analysis of copy number variants
- (2008) T. J. Pugh et al. NUCLEIC ACIDS RESEARCH
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreAdd your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload Now