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[HTML][HTML] Mechanisms of gene duplication and amplification
Abstract Changes in gene copy number are among the most frequent mutational events in
all genomes and were among the mutations for which a physical basis was first known. Yet …
all genomes and were among the mutations for which a physical basis was first known. Yet …
Chromothripsis: chromosomes in crisis
During oncogenesis, cells acquire multiple genetic alterations that confer essential tumor-
specific traits, including immortalization, escape from antimitogenic signaling …
specific traits, including immortalization, escape from antimitogenic signaling …
Genome sequencing of pediatric medulloblastoma links catastrophic DNA rearrangements with TP53 mutations
Genomic rearrangements are thought to occur progressively during tumor development.
Recent findings, however, suggest an alternative mechanism, involving massive …
Recent findings, however, suggest an alternative mechanism, involving massive …
Noninvasive detection of fetal subchromosome abnormalities via deep sequencing of maternal plasma
A Srinivasan, DW Bianchi, H Huang, AJ Sehnert… - The American Journal of …, 2013 - cell.com
The purpose of this study was to determine the deep sequencing and analytic conditions
needed to detect fetal subchromosome abnormalities across the genome from a maternal …
needed to detect fetal subchromosome abnormalities across the genome from a maternal …
Breakpoint profiling of 64 cancer genomes reveals numerous complex rearrangements spawned by homology-independent mechanisms
Tumor genomes are generally thought to evolve through a gradual accumulation of
mutations, but the observation that extraordinarily complex rearrangements can arise …
mutations, but the observation that extraordinarily complex rearrangements can arise …
The Genome Sequence of the North-European Cucumber (Cucumis sativus L.) Unravels Evolutionary Adaptation Mechanisms in Plants
Cucumber (Cucumis sativus L.), a widely cultivated crop, has originated from Eastern
Himalayas and secondary domestication regions includes highly divergent climate …
Himalayas and secondary domestication regions includes highly divergent climate …
Characterising chromosome rearrangements: recent technical advances in molecular cytogenetics
S Le Scouarnec, SM Gribble - Heredity, 2012 - nature.com
Genomic rearrangements can result in losses, amplifications, translocations and inversions
of DNA fragments thereby modifying genome architecture, and potentially having clinical …
of DNA fragments thereby modifying genome architecture, and potentially having clinical …
Structural analysis of the genome of breast cancer cell line ZR-75-30 identifies twelve expressed fusion genes
I Schulte, EM Batty, JCM Pole, KA Blood, S Mo… - BMC genomics, 2012 - Springer
Background It has recently emerged that common epithelial cancers such as breast cancers
have fusion genes like those in leukaemias. In a representative breast cancer cell line, ZR …
have fusion genes like those in leukaemias. In a representative breast cancer cell line, ZR …
Location of balanced chromosome-translocation breakpoints by long-read sequencing on the Oxford nanopore platform
L Hu, F Liang, D Cheng, Z Zhang, G Yu, J Zha… - Frontiers in …, 2020 - frontiersin.org
Genomic structural variants, including translocations, inversions, insertions, deletions, and
duplications, are challenging to be reliably detected by traditional genomic technologies. In …
duplications, are challenging to be reliably detected by traditional genomic technologies. In …
The role of tandem duplicator phenotype in tumour evolution in high‐grade serous ovarian cancer
High‐grade serous ovarian carcinoma (HGSOC) is characterized by genomic instability,
ubiquitous TP53 loss, and frequent development of platinum resistance. Loss of …
ubiquitous TP53 loss, and frequent development of platinum resistance. Loss of …