High-throughput sequencing for biology and medicine

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High-throughput sequencing for biology and medicine is …
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scholarly articleQ13442814
review articleQ7318358

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P356DOI10.1038/MSB.2012.61
P8608Fatcat IDrelease_3oueefh3pfggjnjh4pzsyawpsu
P3181OpenCitations bibliographic resource ID1424206
P932PMC publication ID3564260
P698PubMed publication ID23340846
P5875ResearchGate publication ID235337931

P2093author name stringM. Hariharan
M. P. Snyder
W. W. Soon
P2860cites workIdentification and analysis of functional elements in 1% of the human genome by the ENCODE pilot projectQ21061203
Chromothripsis is a common mechanism driving genomic rearrangements in primary and metastatic colorectal cancerQ21184064
Whole transcriptome sequencing reveals gene expression and splicing differences in brain regions affected by Alzheimer's diseaseQ21562116
Tumor transcriptome sequencing reveals allelic expression imbalances associated with copy number alterationsQ21562666
Human genome sequencing in health and diseaseQ22065433
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DNA sequencing with chain-terminating inhibitorsQ22066207
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RNA-Seq: a revolutionary tool for transcriptomicsQ24596169
Comprehensive long-span paired-end-tag mapping reveals characteristic patterns of structural variations in epithelial cancer genomesQ24607126
Exome sequencing identifies the cause of a mendelian disorderQ24607742
Integrative analysis of the melanoma transcriptomeQ24608060
Nature, nurture, or chance: stochastic gene expression and its consequencesQ24610764
A map of human genome variation from population-scale sequencingQ24617794
Dynamic transcriptomes during neural differentiation of human embryonic stem cells revealed by short, long, and paired-end sequencingQ24620865
Mutational processes molding the genomes of 21 breast cancersQ24620915
The Genomes OnLine Database (GOLD) v.4: status of genomic and metagenomic projects and their associated metadataQ24621641
Massive genomic rearrangement acquired in a single catastrophic event during cancer developmentQ24631164
Human DNA methylomes at base resolution show widespread epigenomic differencesQ24633677
RNA sequencingQ34001619
Performance comparison of exome DNA sequencing technologiesQ34023426
ESRRA-C11orf20 is a recurrent gene fusion in serous ovarian carcinomaQ34031167
Sequence analysis of mutations and translocations across breast cancer subtypesQ34032470
Quantitative high-resolution genomic analysis of single cancer cellsQ34090932
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Methylome analysis using MeDIP-seq with low DNA concentrationsQ34189000
Native elongating transcript sequencing (NET-seq).Q34217194
Genome sequencing of pediatric medulloblastoma links catastrophic DNA rearrangements with TP53 mutationsQ34248736
Tumor heterogeneityQ34257678
Single-cell exome sequencing reveals single-nucleotide mutation characteristics of a kidney tumorQ34258285
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G9a-mediated irreversible epigenetic inactivation of Oct-3/4 during early embryogenesis.Q34485045
Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humansQ34495131
A human genome structural variation sequencing resource reveals insights into mutational mechanismsQ34519304
Gene identification signature (GIS) analysis for transcriptome characterization and genome annotationQ34556124
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Mapping networks of physical interactions between genomic elements using 5C technologyQ34578862
Single-cell exome sequencing and monoclonal evolution of a JAK2-negative myeloproliferative neoplasmQ39386631
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Efficient capture of circulating tumor cells with a novel immunocytochemical microfluidic deviceQ39608338
Population context determines cell-to-cell variability in endocytosis and virus infectionQ39807636
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Class I histone deacetylase-selective novel synthetic inhibitors potently inhibit human tumor proliferationQ40527947
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Global histone modification patterns predict risk of prostate cancer recurrenceQ46162501
The gene encoding phosphodiesterase 4D confers risk of ischemic strokeQ48185073
Single-cell analysis: The deepest differences.Q48531784
Rapid isolation and detection of cancer cells by utilizing integrated microfluidic systems.Q51554299
Isolation of endothelial cells from fresh tissues.Q51954306
Cytokeratin labeling of breast cancer cells extracted from paraffin-embedded tissue for bivariate flow cytometric analysis.Q54455036
The three 'C' s of chromosome conformation capture: controls, controls, controls.Q54625818
When catastrophe strikes a cellQ57304558
Laser-capture microdissectionQ60673340
Erratum: Corrigendum: Performance comparison of whole-genome sequencing platformsQ62972128
Fluorescence in situ hybridization analysis of single-cell trisomies for determination of clonalityQ74409073
More to Hi-C than meets the eyeQ82221849
Single-cell chromosomal imbalances detection by array CGHQ83337530
Exome sequencing of gastric adenocarcinoma identifies recurrent somatic mutations in cell adhesion and chromatin remodeling genesQ83831946
Cell Biology. Using cell-to-cell variability--a new era in molecular biologyQ84008791
A high-resolution survey of deletion polymorphism in the human genomeQ94465012
The transcriptional landscape of the yeast genome defined by RNA sequencingQ24633693
Sequencing technologies and genome sequencingQ24635185
Combinatorial patterns of histone acetylations and methylations in the human genomeQ24647290
A second generation human haplotype map of over 3.1 million SNPsQ24651939
Genome-wide analysis in vivo of translation with nucleotide resolution using ribosome profilingQ24651977
Paired-end mapping reveals extensive structural variation in the human genomeQ24653260
Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal bloodQ24657306
Global variation in copy number in the human genomeQ24658083
FAIRE (Formaldehyde-Assisted Isolation of Regulatory Elements) isolates active regulatory elements from human chromatinQ24673476
A public resource facilitating clinical use of genomesQ27133763
Global and unbiased detection of splice junctions from RNA-seq dataQ27499416
Use of whole-genome sequencing to diagnose a cryptic fusion oncogeneQ27851641
Sequencing technologies - the next generationQ27860568
The International HapMap ProjectQ27860695
High-resolution profiling of histone methylations in the human genomeQ27860906
Nascent transcript sequencing visualizes transcription at nucleotide resolutionQ27930489
Stochastic gene expression in a single cellQ28131784
Comprehensive mapping of long-range interactions reveals folding principles of the human genomeQ28131819
Capturing chromosome conformationQ28201750
mRNA-Seq whole-transcriptome analysis of a single cellQ28240611
Laser capture microdissection technologyQ28250373
Genome-wide mapping of HATs and HDACs reveals distinct functions in active and inactive genesQ28255974
Chromosome Conformation Capture Carbon Copy (5C): a massively parallel solution for mapping interactions between genomic elementsQ28262061
Topological domains in mammalian genomes identified by analysis of chromatin interactionsQ28264221
Whole-genome sequencing of liver cancers identifies etiological influences on mutation patterns and recurrent mutations in chromatin regulatorsQ28267500
Mapping human genetic diversity in AsiaQ28267585
The clonal evolution of tumor cell populationsQ28271546
Resolution of cell fate decisions revealed by single-cell gene expression analysis from zygote to blastocystQ28280404
Stem cell transcriptome profiling via massive-scale mRNA sequencingQ28282295
The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibilityQ28301418
Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel diseaseQ28301461
Integrative analysis of the Caenorhabditis elegans genome by the modENCODE projectQ28301622
Nascent RNA sequencing reveals widespread pausing and divergent initiation at human promotersQ28302903
Nuclear organization of the genome and the potential for gene regulationQ28303751
CNVnator: an approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencingQ28305453
Tumour evolution inferred by single-cell sequencingQ28646966
Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitusQ28771769
An oestrogen-receptor-α-bound human chromatin interactomeQ29541719
Genome-wide mapping of in vivo protein-DNA interactionsQ29547162
The cancer genomeQ29547643
Genomic binding sites of the yeast cell-cycle transcription factors SBF and MBFQ29547783
The life history of 21 breast cancersQ29614642
Personal omics profiling reveals dynamic molecular and medical phenotypesQ29614800
Annotation of functional variation in personal genomes using RegulomeDBQ29614867
Stability and flexibility of epigenetic gene regulation in mammalian developmentQ29615922
Extensive promoter-centered chromatin interactions provide a topological basis for transcription regulationQ29615949
Identification of functional elements and regulatory circuits by Drosophila modENCODEQ29617551
Genomic maps of long noncoding RNA occupancy reveal principles of RNA-chromatin interactionsQ29617830
Genome-wide profiles of STAT1 DNA association using chromatin immunoprecipitation and massively parallel sequencingQ29618021
Molecular mechanisms of long noncoding RNAsQ29618027
Role for DNA methylation in genomic imprintingQ29618669
Causal protein-signaling networks derived from multiparameter single-cell dataQ29619136
Whole-exome sequencing of human pancreatic cancers and characterization of genomic instability caused by MLH1 haploinsufficiency and complete deficiencyQ30465158
Dynamic transcriptome analysis measures rates of mRNA synthesis and decay in yeastQ30498341
PET-Tool: a software suite for comprehensive processing and managing of Paired-End diTag (PET) sequence dataQ31057101
CAGE: cap analysis of gene expressionQ33234345
Intermingling of chromosome territories in interphase suggests role in translocations and transcription-dependent associationsQ33240304
DNA methylation supports intrinsic epigenetic memory in mammalian cellsQ33242824
Laser capture microdissection.Q33244353
Circular chromosome conformation capture (4C) uncovers extensive networks of epigenetically regulated intra- and interchromosomal interactions.Q33260024
Paired-end genomic signature tags: a method for the functional analysis of genomes and epigenomes.Q33265849
High resolution array-CGH analysis of single cellsQ33267061
Paired-end diTagging for transcriptome and genome analysisQ33319230
Chromatin interaction analysis using paired-end tag sequencing.Q33523549
Tumor heterogeneity: causes and consequencesQ33624298
Nucleotide Frequency Variation Across Human GenesQ33683753
Chromosome territoriesQ33693822
Performance comparison of whole-genome sequencing platformsQ33824777
Single cell analysis: the new frontier in 'omics'.Q33875993
DNA methylation and silencing of gene expressionQ33885395
Identification of genomic indels and structural variations using split readsQ33970542
Chromatin architectureQ33994172
Stem cells at the dawn of the 21st centuryQ34581992
Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasisQ34603580
Genetic testing for potentially lethal, highly treatable inherited cardiomyopathies/channelopathies in clinical practiceQ34627407
Next-generation sequencing transforms today's biologyQ34731728
Transcriptional consequences of genomic structural aberrations in breast cancerQ34867822
Identification of fusion genes in breast cancer by paired-end RNA-sequencingQ34964405
Next-generation DNA sequencing of paired-end tags (PET) for transcriptome and genome analysesQ34973377
Genome-wide identification of human RNA editing sites by parallel DNA capturing and sequencingQ34983645
Hereditary chronic lymphocytic leukemia: an extended family study and literature reviewQ34984175
Mapping accessible chromatin regions using Sono-SeqQ34999369
Transcriptome sequencing across a prostate cancer cohort identifies PCAT-1, an unannotated lincRNA implicated in disease progressionQ35154249
Exome sequencing identifies GRIN2A as frequently mutated in melanomaQ35179796
Exome sequencing identifies a spectrum of mutation frequencies in advanced and lethal prostate cancersQ35345680
AlleleSeq: analysis of allele-specific expression and binding in a network frameworkQ35526123
Stem cells: review and updateQ35626633
New insights into Acinetobacter baumannii pathogenesis revealed by high-density pyrosequencing and transposon mutagenesisQ35677298
Whole-genome sequencing for optimized patient managementQ35857612
Spatial organization of the mouse genome and its role in recurrent chromosomal translocationsQ35874015
CTCF-mediated functional chromatin interactome in pluripotent cellsQ36218315
DNA methylation and gene silencing in cancerQ36338042
An encyclopedia of mouse DNA elements (Mouse ENCODE).Q36377972
High-resolution array comparative genomic hybridization of single micrometastatic tumor cells.Q36633194
Living with noisy genes: how cells function reliably with inherent variability in gene expressionQ36810344
Where shall we meet? A role for genome organisation and nuclear sub-compartments in mediating interchromosomal interactions.Q37126532
Global mapping of protein-DNA interactions in vivo by digital genomic footprintingQ37157318
Germline allele-specific expression of TGFBR1 confers an increased risk of colorectal cancerQ37168622
Genomic sequencing of colorectal adenocarcinomas identifies a recurrent VTI1A-TCF7L2 fusionQ37242449
Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's diseaseQ37318174
Digital RNA allelotyping reveals tissue-specific and allele-specific gene expression in humanQ37343820
Circulating tumour cells, their role in metastasis and their clinical utility in lung cancer.Q37972407
Application of next generation sequencing to molecular diagnosis of inherited diseasesQ38009214
ChIP-chip: a genomic approach for identifying transcription factor binding sitesQ38287979
Defining transcribed regions using RNA-seqQ38431799
9p21 DNA variants associated with coronary artery disease impair interferon-γ signalling responseQ39048288
P275copyright licenseCreative Commons Attribution-NonCommercial-ShareAlike 3.0 UnportedQ15643954
P6216copyright statuscopyrightedQ50423863
P407language of work or nameEnglishQ1860
P921main subjectmedical researchQ2752427
biomedical investigative techniqueQ66648976
high-throughput sequencingQ112147935
P304page(s)640
P577publication date2013-01-01
P1433published inMolecular Systems BiologyQ2261043
P1476titleHigh-throughput sequencing for biology and medicine
P478volume9

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