Search
Search Results
-
Scrambling the genome in cancer: causes and consequences of complex chromosome rearrangements
Complex chromosome rearrangements, known as chromoanagenesis, are widespread in cancer. Based on large-scale DNA sequencing of human tumours, the...
-
Stable transmission of an unbalanced chromosome 21 derived from chromoanasynthesis in a patient with a SYNGAP1 likely pathogenic variant
BackgroundComplex genomic structural variations, involving chromoanagenesis, have been implicated in multiple congenital anomalies and abnormal...
-
Chromoanasynthesis is a common mechanism that leads to ERBB2 amplifications in a cohort of early stage HER2+ breast cancer samples
BackgroundHER2 positive (HER2+) breast cancers involve chromosomal structural alterations that act as oncogenic driver events.
Methods ...
-
Tracking Karyotype Changes in Treatment-Induced Drug-Resistant Evolution
Karyotype coding, which encompasses the complete chromosome sets and their topological genomic relationships within a given species, encodes...
-
Chromoanagenesis: a piece of the macroevolution scenario
Over the last decade, new types of massive and complex chromosomal rearrangements based on the chaotic shattering and restructuring of chromosomes...
-
Stable transmission of complex chromosomal rearrangements involving chromosome 1q derived from constitutional chromoanagenesis
BackgroundChromoanagenesis events encompassing chromoanasynthesis, chromoplexy, and chromothripsis are described in cancers and can result in highly...
-
Complex chromosomal rearrangements of human chromosome 21 in a patient manifesting clinical features partially overlapped with that of Down syndrome
The chromosomal region critical in Down syndrome has long been analyzed through genotype–phenotype correlation studies using data from many patients...
-
Mechanisms of structural chromosomal rearrangement formation
Structural chromosomal rearrangements result from different mechanisms of formation, usually related to certain genomic architectural features that...
-
Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism
Complex chromosomal rearrangements involve the restructuring of genetic material within a single chromosome or across multiple chromosomes. These...
-
Deciphering the complexity of simple chromosomal insertions by genome sequencing
Chromosomal insertions are thought to be rare structural rearrangements. The current understanding of the underlying mechanisms of their origin is...
-
Methods of Detection and Mechanisms of Origin of Complex Structural Genome Variations
Based on classical karyoty**, structural genome variations (SVs) have generally been considered to be either “simple” (with one or two breakpoints)...
-
Single-Cell Genomic and Epigenomic DNA Analyses
This chapter will be dedicated to methods for single-cell genome and epigenome analysis of the human brain. Examining the (epi)genome at a high...
-
Chromoanagenesis: cataclysms behind complex chromosomal rearrangements
BackgroundDuring the last decade, genome sequencing projects in cancer genomes as well as in patients with congenital diseases and healthy...
-
Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm
Constitutional complex chromosomal rearrangements (CCRs) are rare cytogenetic aberrations arising in the germline via an unknown mechanism. Here we...
-
Small but mighty: the causes and consequences of micronucleus rupture
Micronuclei are small DNA-containing nuclear structures that are spatially isolated from the main nucleus. They are frequently found in pathologies,...
-
Hybrid sequencing resolves two germline ultra-complex chromosomal rearrangements consisting of 137 breakpoint junctions in a single carrier
Chromoanagenesis is a genomic event responsible for the formation of complex structural chromosomal rearrangements (CCRs). Germline chromoanagenesis...
-
Structural variations in cancer and the 3D genome
Structural variations (SVs) affect more of the cancer genome than any other type of somatic genetic alteration but difficulties in detecting and...
-
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases
BackgroundWhole genome sequencing is increasingly being used for the diagnosis of patients with rare diseases. However, the diagnostic yields of many...
-
Aneuploid abortion correlates positively with MAD1 overexpression and miR-125b down-regulation
BackgroundAneuploidy is the most frequent cause of early-embryo abortion. Any defect in chromosome segregation would fail to satisfy the spindle...
-
Ring Chromosome 22
About 250 cases of ring chromosome 22 (RC22) have been reported in the literature. Approximately 90% of RC22 cases have a deletion of the terminal...