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。Validation and Implementation of Targeted Capture and Sequencing for the Detection of Actionable Mutation, Copy Number Variation, and Gene Rearrangement in Clinical Cancer Specimens
Colin C. Pritchard et al.
JOURNAL OF MOLECULAR DIAGNOSTICS (2014)
Identification of pre-leukaemic haematopoietic stem cells in acute leukaemia
Liran I. Shlush et al.
NATURE (2014)
Discovery and saturation analysis of cancer genes across 21 tumour types
Michael S. Lawrence et al.
NATURE (2014)
Integrated analysis of germline and somatic variants in ovarian cancer
Krishna L. Kanchi et al.
NATURE COMMUNICATIONS (2014)
Genetic loss of SH2B3 in acute lymphoblastic leukemia
Arianne Perez-Garcia et al.
BLOOD (2013)
Cancer statistics, 2013
Rebecca Siegel et al.
CA-A CANCER JOURNAL FOR CLINICIANS (2013)
Evolution and Impact of Subclonal Mutations in Chronic Lymphocytic Leukemia
Dan A. Landau et al.
CELL (2013)
ACMG clinical laboratory standards for next-generation sequencing
Heidi L. Rehm et al.
GENETICS IN MEDICINE (2013)
Deletion of Asxl1 results in myelodysplasia and severe developmental defects in vivo
Omar Abdel-Wahab et al.
JOURNAL OF EXPERIMENTAL MEDICINE (2013)
Clonal diversity of recurrently mutated genes in myelodysplastic syndromes
M. J. Walter et al.
LEUKEMIA (2013)
Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer
Elise Ruark et al.
NATURE (2013)
Mutational landscape and significance across 12 major cancer types
Cyriac Kandoth et al.
NATURE (2013)
Development and validation of a clinical cancer genomic profiling test based on massively parallel DNA sequencing
Garrett M. Frampton et al.
NATURE BIOTECHNOLOGY (2013)
Somatic CALR Mutations in Myeloproliferative Neoplasms with Nonmutated JAK2
J. Nangalia et al.
NEW ENGLAND JOURNAL OF MEDICINE (2013)
Genomic and Epigenomic Landscapes of Adult De Novo Acute Myeloid Leukemia
Timothy J. Ley et al.
NEW ENGLAND JOURNAL OF MEDICINE (2013)
Age-Related Somatic Structural Changes in the Nuclear Genome of Human Blood Cells
Lars A. Forsberg et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
The Origin and Evolution of Mutations in Acute Myeloid Leukemia
John S. Welch et al.
CELL (2012)
VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing
Daniel C. Koboldt et al.
GENOME RESEARCH (2012)
The genetic basis of early T-cell precursor acute lymphoblastic leukaemia
Jinghui Zhang et al.
NATURE (2012)
Recurrent somatic TET2 mutations in normal elderly individuals with clonal hematopoiesis
Lambert Busque et al.
NATURE GENETICS (2012)
Detectable clonal mosaicism and its relationship to aging and cancer
Kevin B. Jacobs et al.
NATURE GENETICS (2012)
Detectable clonal mosaicism from birth to old age and its relationship to cancer
Cathy C. Laurie et al.
NATURE GENETICS (2012)
Base-Pair Resolution DNA Methylation Sequencing Reveals Profoundly Divergent Epigenetic Landscapes in Acute Myeloid Leukemia
Altuna Akalin et al.
PLOS GENETICS (2012)
Somatic mutations in the transcriptional corepressor gene BCORL1 in adult acute myelogenous leukemia
Meng Li et al.
BLOOD (2011)
Frequent pathway mutations of splicing machinery in myelodysplasia
Kenichi Yoshida et al.
NATURE (2011)
Clinical Effect of Point Mutations in Myelodysplastic Syndromes
Rafael Bejar et al.
NEW ENGLAND JOURNAL OF MEDICINE (2011)
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
Aaron McKenna et al.
GENOME RESEARCH (2010)
DNMT3A Mutations in Acute Myeloid Leukemia.
Timothy J. Ley et al.
NEW ENGLAND JOURNAL OF MEDICINE (2010)
Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads
Kai Ye et al.
BIOINFORMATICS (2009)
Fast and accurate short read alignment with Burrows-Wheeler transform
Heng Li et al.
BIOINFORMATICS (2009)
Mutations of polycomb-associated gene ASXL1 in myelodysplastic syndromes and chronic myelomonocytic leukaemia
Veronique Gelsi-Boyer et al.
BRITISH JOURNAL OF HAEMATOLOGY (2009)
Mutation in TET2 in Myeloid Cancers
Francois Delhommeau et al.
NEW ENGLAND JOURNAL OF MEDICINE (2009)
Gsα mutations in fibrous dysplasia and McCune-Albright syndrome
Lee S. Weinstein
JOURNAL OF BONE AND MINERAL RESEARCH (2006)
A gain-of-function mutation of JAK2 in myeloproliferative disorders
R Kralovics et al.
NEW ENGLAND JOURNAL OF MEDICINE (2005)
Activating Gsα mutations:: Analysis of 113 patients with signs of McCune-Albright syndrome -: A European Collaborative Study
S Lumbroso et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2004)