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Open AccessBreakTrans: uncovering the genomic architecture of gene fusions
Producing gene fusions through genomic structural rearrangements is a major mechanism for tumor evolution. Therefore, accurately detecting gene fusions and the originating rearrangements is of great importance...
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Open AccessWhole-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 of neoadjuvant ar...
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Open AccessClonal evolution in relapsed acute myeloid leukaemia revealed by whole-genome sequencing
The sequencing of AML genomes of eight patients before and after relapse reveals two major patterns of clonal evolution, with chemotherapy appearing to have a role in both patterns.
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Article
Genome remodelling in a basal-like breast cancer metastasis and xenograft
Massively parallel DNA sequencing technologies provide an unprecedented ability to screen entire genomes for genetic changes associated with tumour progression. Here we describe the genomic analyses of four DN...
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Article
BreakDancer: an algorithm for high-resolution map** of genomic structural variation
This software package provides genome-wide detection of structural variants (insertions, deletions, inversions and inter- and intrachromosomal translocations) from 50-base-pair paired-end reads. The sizes of t...
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Generation and annotation of the DNA sequences of human chromosomes 2 and 4
Human chromosome 2 is unique to the human lineage in being the product of a head-to-head fusion of two intermediate-sized ancestral chromosomes. Chromosome 4 has received attention primarily related to the sea...
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A physical map of the chicken genome
Strategies for assembling large, complex genomes have evolved to include a combination of whole-genome shotgun sequencing and hierarchal map-assisted sequencing1,2. Whole-genome maps of all types can aid genome a...
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Article
The DNA sequence of human chromosome 7
Human chromosome 7 has historically received prominent attention in the human genetics community, primarily related to the search for the cystic fibrosis gene and the frequent cytogenetic changes associated wi...
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Evidence for a nucleotide-dependent topoisomerase activity from yeast mitochondria
Yeast mitochondria were found to contain a novel topoisomerase-like activity which required nucleoside di- or tri-phosphates as a cofactor. ADP supported activity as effectively as ATP and the optimal concentr...