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BreakDancer: An algorithm for high resolution mapping of genomic structural variation
Detection and characterization of genomic structural variation are important for understanding the landscape of genetic variation in human populations and in complex diseases such as cancer. RecentExpand
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Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia.
BACKGROUND Many mutations that contribute to the pathogenesis of acute myeloid leukemia (AML) are undefined. The relationships between patterns of mutations and epigenetic phenotypes are not yetExpand
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The genetic basis of early T-cell precursor acute lymphoblastic leukaemia
Early T-cell precursor acute lymphoblastic leukaemia (ETP ALL) is an aggressive malignancy of unknown genetic basis. We performed whole-genome sequencing of 12 ETP ALL cases and assessed theExpand
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Recurring mutations found by sequencing an acute myeloid leukemia genome.
BACKGROUND The full complement of DNA mutations that are responsible for the pathogenesis of acute myeloid leukemia (AML) is not yet known. METHODS We used massively parallel DNA sequencing toExpand
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Clonal evolution in relapsed acute myeloid leukemia revealed by whole genome sequencing
Most patients with acute myeloid leukaemia (AML) die from progressive disease after relapse, which is associated with clonal evolution at the cytogenetic level. To determine the mutational spectrumExpand
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Mutational landscape and significance across 12 major cancer types
The Cancer Genome Atlas (TCGA) has used the latest sequencing and analysis methods to identify somatic variants across thousands of tumours. Here we present data and analytical results for pointExpand
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The Origin and Evolution of Mutations in Acute Myeloid Leukemia
Most mutations in cancer genomes are thought to be acquired after the initiating event, which may cause genomic instability and drive clonal evolution. However, for acute myeloid leukemia (AML),Expand
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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
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SomaticSniper: identification of somatic point mutations in whole genome sequencing data
TLDR
MOTIVATION The sequencing of tumors and their matched normals is frequently used to study the genetic composition of cancer. Expand
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Recurrent DNMT3A Mutations in Patients with Myelodysplastic Syndromes
Alterations in DNA methylation have been implicated in the pathogenesis of myelodysplastic syndromes (MDS), although the underlying mechanism remains largely unknown. Methylation of CpG dinucleotidesExpand
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