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Cancer Research, ISSN 0008-5472, 07/2016, Volume 76, Issue 14 Supplement, pp. 2436 - 2436
Current cancer genome data portals have focused primarily on presenting data generated from adult cancer studies. These portals typically lack features for... 
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 12/2015, Volume 373, Issue 24, pp. 2336 - 2346
Journal Article
Nature Communications, ISSN 2041-1723, 04/2014, Volume 5, Issue 1, pp. 3630 - 3630
Journal Article
Nature, ISSN 0028-0836, 03/2018, Volume 555, Issue 7696, pp. 371 - 376
Journal Article
Nature Genetics, ISSN 1061-4036, 12/2015, Volume 48, Issue 1, pp. 4 - 6
  The pediatric data set consists of 27,188 validated somatic coding lesions acquired at diagnosis or relapse from 17 subtypes of pediatric cancer, 252... 
ACUTE LYMPHOBLASTIC-LEUKEMIA | GENETICS & HEREDITY | Proteins - genetics | User-Computer Interface | Neoplasms - genetics | Humans | Gene Expression Regulation, Neoplastic | Databases, Genetic | Software | Mutation | Genome, Human | Child | Proteins | Studies | Pediatrics | Medical research | Visualization | Genomes | Kinases | Gene expression | Children & youth | Tumors | Cancer
Journal Article
Cancer Cell, ISSN 1535-6108, 08/2012, Volume 22, Issue 2, pp. 153 - 166
Genomic profiling has identified a subtype of high-risk B-progenitor acute lymphoblastic leukemia (B-ALL) with alteration of , a gene expression profile... 
GROWTH-FACTOR RECEPTOR | BCR-JAK2 FUSION GENE | ONCOLOGY | NUCLEAR-PORE | MYELOPROLIFERATIVE NEOPLASMS | ACUTE MYELOID-LEUKEMIA | OF-FUNCTION MUTATIONS | FLT3 MUTATIONS | CHILDHOOD | B-PROGENITOR | CHRONIC MYELOMONOCYTIC LEUKEMIA | CELL BIOLOGY | Recurrence | Humans | Molecular Sequence Data | RNA, Messenger - metabolism | Receptor, Platelet-Derived Growth Factor beta - genetics | Protein-Tyrosine Kinases - genetics | DNA Mutational Analysis | Base Sequence | Trans-Activators - genetics | Phosphorylation - drug effects | Philadelphia Chromosome | Receptors, Cytokine - genetics | Genetic Predisposition to Disease | RNA, Messenger - genetics | Risk Factors | Gene Expression Regulation, Leukemic - drug effects | Signal Transduction - genetics | Enzyme Activation - drug effects | Mutation - genetics | Precursor Cell Lymphoblastic Leukemia-Lymphoma - genetics | Animals | Signal Transduction - drug effects | Cell Transformation, Neoplastic | Oncogene Proteins, Fusion - genetics | Precursor Cell Lymphoblastic Leukemia-Lymphoma - enzymology | Mice | Protein Kinase Inhibitors - pharmacology | Gene Rearrangement - genetics | Sequence Deletion - genetics | Tyrosine | Platelet-derived growth factor | Cytokines | Genes | Oncology, Experimental | Genomes | Research | Gene expression | Population genetics | Hunger | Medical genetics | Genetic research | Nucleotide sequencing | Acute lymphocytic leukemia | Cancer | DNA sequencing
Journal Article
Journal Article
Genome Biology, ISSN 1474-7596, 03/2019, Volume 20, Issue 1, pp. 50 - 15
BackgroundSequencing errors are key confounding factors for detecting low-frequency genetic variants that are important for cancer molecular diagnosis,... 
Deep sequencing | Subclonal | Substitution | Detection | Hotspot mutation | Error rate | MUTATIONAL PROCESSES | SIGNATURES | LANDSCAPE | RISK | GENOME | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | CLONAL HEMATOPOIESIS | DNA | GENES | GENETICS & HEREDITY | AGE | Datasets | Studies | Genetic variance | Next-generation sequencing | Archives & records | Quality | Software | Genomes | Mutation | Bioinformatics | Deoxyribonucleic acid--DNA | Cancer
Journal Article
RNA, ISSN 1355-8382, 08/2018, Volume 24, Issue 8, p. 1056
The recent identification of compounds that interact with the spliceosome (sudemycins, spliceostatin A, and meayamycin) indicates that these molecules modulate... 
Splicing | Introns | Exon skipping | Isoforms | Negative selection | Gene expression
Journal Article
Journal Article
GENOME RESEARCH, ISSN 1088-9051, 09/2019, Volume 29, Issue 9, pp. 1555 - 1565
Variant interpretation in the era of massively parallel sequencing is challenging. Although many resources and guidelines are available to assist with this... 
MISSENSE | SEQUENCE VARIATION | KNOWLEDGEBASE | BIOCHEMISTRY & MOLECULAR BIOLOGY | AMERICAN-COLLEGE | MEDICAL GENETICS | CLINICAL INTERPRETATION | GENOME | GENETIC-VARIATION | DATABASE | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | GENETICS & HEREDITY | MUTATIONS | Resource
Journal Article