Chromoanagenesis: a piece of the macroevolution scenario [PDF]
Molecular Cytogenetics, 2020 Over the last decade, new types of massive and complex chromosomal rearrangements based on the chaotic shattering and restructuring of chromosomes have been identified in cancer cells as well as in patients with congenital diseases and healthy ...
Franck Pellestor, Vincent Gatinois
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An Integrated Approach Including CRISPR/Cas9-Mediated Nanopore Sequencing, Mate Pair Sequencing, and Cytogenomic Methods to Characterize Complex Structural Rearrangements in Acute Myeloid Leukemia [PDF]
BiomedicinesComplex structural chromosome abnormalities such as chromoanagenesis have been reported in acute myeloid leukemia (AML). They are usually not well characterized by conventional genetic methods, and the characterization of chromoanagenesis structural ...
Michael Phan +9 more
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Exploring the size limits of Bionano optical genome mapping to resolve alternative structures of linked interspersed chromosomal duplications [PDF]
Genome MedicineBackground Determining the correct structure of large, interspersed duplications and related complex genomic rearrangements in genetic disease is critical when establishing causal roles and requires a technology able to span the entire duplicated segment(
Yang Pei +13 more
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P282: Germline NF1 variant and mosaic chromoanasynthesis of chromosome 12
Genetics in Medicine OpenRachel Rabin, John Pappas
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Analysis of the Mutational Landscape of Osteosarcomas Identifies Genes Related to Metastasis and Prognosis and Disrupted Biological Pathways of Immune Response and Bone Development [PDF]
International Journal of Molecular Sciences, 2023 Osteosarcoma (OS) is the most prevalent type of bone tumor, but slow progress has been achieved in disentangling the full set of genomic events involved in its initiation and progression.
Erica Boldrini +2 more
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Chromoanagenesis: cataclysms behind complex chromosomal rearrangements
Molecular Cytogenetics, 2019 Background During the last decade, genome sequencing projects in cancer genomes as well as in patients with congenital diseases and healthy individuals have led to the identification of new types of massive chromosomal rearrangements arising during ...
Franck Pellestor
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Mechanisms for Complex Chromosomal Insertions. [PDF]
PLoS Genetics, 2016 Chromosomal insertions are genomic rearrangements with a chromosome segment inserted into a non-homologous chromosome or a non-adjacent locus on the same chromosome or the other homologue, constituting ~2% of nonrecurrent copy-number gains.
Shen Gu +16 more
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G3: Genes, Genomes, Genetics, 2016 Chromoanasynthesis is a recently discovered phenomenon in humans with congenital diseases that is characterized by complex genomic rearrangements (CGRs) resulting from aberrant repair of catastrophic chromosomal damage.
Omar A. Itani +4 more
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Complex Chromosomal Rearrangements in B-Cell Lymphoma: Evidence of Chromoanagenesis? A Case Report [PDF]
Neoplasia: An International Journal for Oncology Research, 2016 Genomic instability is a well-known hallmark of cancer. Recent genome sequencing studies have led to the identification of novel phenomena called chromothripsis and chromoanasynthesis in which complex genomic rearrangements are thought to be derived from
Veronica Ortega +6 more
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Stable transmission of complex chromosomal rearrangements involving chromosome 1q derived from constitutional chromoanagenesis [PDF]
Molecular Cytogenetics, 2019 Background Chromoanagenesis events encompassing chromoanasynthesis, chromoplexy, and chromothripsis are described in cancers and can result in highly complex chromosomal rearrangements derived from ‘all-at-once’ catastrophic cellular events.
Mary A. Gudipati +7 more
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