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BreakDancer: An algorithm for high resolution mapping of genomic structural variation
The algorithm BreakDancer predicts a wide variety of structural variants including insertion-deletions (indels), inversions and translocations and sensitively and accurately detected indels ranging from 10 base pairs to 1 megabase pair that are difficult to detect via a single conventional approach. Expand
Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia.
It is found that a complex interplay of genetic events contributes to AML pathogenesis in individual patients and the databases from this study are widely available to serve as a foundation for further investigations of AMl pathogenesis, classification, and risk stratification. Expand
Recurring mutations found by sequencing an acute myeloid leukemia genome.
By comparing the sequences of tumor and skin genomes of a patient with AML-M1, recurring mutations that may be relevant for pathogenesis are identified. Expand
Clonal evolution in relapsed acute myeloid leukemia revealed by whole genome sequencing
The sequenced primary tumour and relapse genomes from eight AML patients and validated hundreds of somatic mutations using deep sequencing demonstrated that AML relapse is associated with the addition of new mutations and clonal evolution, which is shaped by the chemotherapy that the patients receive to establish and maintain remissions. Expand
The genetic basis of early T-cell precursor acute lymphoblastic leukaemia
The mutational spectrum is similar to myeloid tumours, and moreover, the global transcriptional profile of ETP ALL was similar to that of normal andMyeloid leukaemia haematopoietic stem cells, suggesting that addition of myeloids-directed therapies might improve the poor outcome of E TP ALL. Expand
Mutational landscape and significance across 12 major cancer types
Data and analytical results for point mutations and small insertions/deletions from 3,281 tumours across 12 tumour types are presented as part of the TCGA Pan-Cancer effort, and clinical association analysis identifies genes having a significant effect on survival. Expand
The Origin and Evolution of Mutations in Acute Myeloid Leukemia
The data suggest that most of the mutations found in AML genomes are actually random events that occurred in HSPCs before they acquired the initiating mutation; the mutational history of that cell is "captured" as the clone expands. Expand
Whole Genome Analysis Informs Breast Cancer Response to Aromatase Inhibition
To correlate the variable clinical features of oestrogen-receptor-positive breast cancer with somatic alterations, we studied pretreatment tumour biopsies accrued from patients in two studies ofExpand
Recurrent DNMT3A Mutations in Patients with Myelodysplastic Syndromes
DNMT3A mutations were expressed in the majority of cells in all tested mutant samples regardless of myeloblast counts, suggesting that DNMT3B mutations occur early in the course of MDS, and may have prognostic value in de novo MDS. Expand
Comprehensive Characterization of Cancer Driver Genes and Mutations
This study reports a PanCancer and PanSoftware analysis spanning 9,423 tumor exomes (comprising all 33 of The Cancer Genome Atlas projects) and using 26 computational tools to catalog driver genes and mutations, identifying 299 driver genes with implications regarding their anatomical sites and cancer/cell types. Expand