Concurrent detection of targeted copy number variants and mutations using a myeloid malignancy next generation sequencing panel allows comprehensive genetic analysis using a single testing strategy

British Journal of Haematology

Volumn 173, Issue 1, 2016, Pages 49-58

  Shen, Wei ^a   Szankasi, Philippe ^a   Sederberg, Maria ^a   Schumacher, Jonathan ^a   Frizzell, Kimberly A ^a   Gee, Elaine P ^a   Patel, Jay L ^b   South, Sarah T ^b   Xu, Xinjie ^b   Kelley, Todd W ^b  

^a ARUP LABORATORIES   (United States)

^b UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

Circular binary segmentation; Copy number variant; Molecular diagnostics; Myeloid malignancies; Next generation sequencing

Indexed keywords

ISOCITRATE DEHYDROGENASE 1; NUCLEOPHOSMIN; TRANSCRIPTION FACTOR ETV6; TRANSCRIPTION FACTOR EZH2; TUMOR PROTEIN;

ACUTE MYELOBLASTIC LEUKEMIA; ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; COPY NUMBER VARIATION; ETV6 GENE; EZH2 GENE; FEASIBILITY STUDY; FEMALE; GENE; GENE DELETION; GENE DUPLICATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; HUMAN; IDH1 GENE; KMT2A GENE; LUC7L2 GENE; MAJOR CLINICAL STUDY; MYELODYSPLASTIC SYNDROME; MYELOPROLIFERATIVE NEOPLASM; NEXT GENERATION SEQUENCING; NPM1 GENE; NSD1 GENE; ONCOGENE K RAS; PRIORITY JOURNAL; RAD21 GENE; SINGLE NUCLEOTIDE POLYMORPHISM; SOMATIC MUTATION; TUMOR SUPPRESSOR GENE; CLINICAL TRIAL; GENETICS; HEMATOLOGIC DISEASE; HIGH THROUGHPUT SEQUENCING; MALE;

DNA COPY NUMBER VARIATIONS; FEMALE; HEMATOLOGIC NEOPLASMS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; NEOPLASM PROTEINS;

EID: 84953316289     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/bjh.13921     Document Type: Article

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