Mechanisms underlying structural variant formation in genomic disorders

CMB Carvalho, JR Lupski - Nature Reviews Genetics, 2016 - nature.com
With the recent burst of technological developments in genomics, and the clinical
implementation of genome-wide assays, our understanding of the molecular basis of …

Mechanisms of structural chromosomal rearrangement formation

B Burssed, M Zamariolli, FT Bellucco… - Molecular …, 2022 - Springer
Structural chromosomal rearrangements result from different mechanisms of formation,
usually related to certain genomic architectural features that may lead to genetic instability …

[HTML][HTML] Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders

D Porubsky, W Höps, H Ashraf, PH Hsieh… - Cell, 2022 - cell.com
Unlike copy number variants (CNVs), inversions remain an underexplored genetic variation
class. By integrating multiple genomic technologies, we discover 729 inversions in 41 …

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

CR Marshall, DP Howrigan, D Merico… - Nature …, 2017 - nature.com
Copy number variants (CNVs) have been strongly implicated in the genetic etiology of
schizophrenia (SCZ). However, genome-wide investigation of the contribution of CNV to risk …

Scrambling the genome in cancer: causes and consequences of complex chromosome rearrangements

K Krupina, A Goginashvili, DW Cleveland - Nature Reviews Genetics, 2024 - nature.com
Complex chromosome rearrangements, known as chromoanagenesis, are widespread in
cancer. Based on large-scale DNA sequencing of human tumours, the most frequent type of …

Non-coding genetic variants in human disease

F Zhang, JR Lupski - Human molecular genetics, 2015 - academic.oup.com
Genetic variants, including single-nucleotide variants (SNVs) and copy number variants
(CNVs), in the non-coding regions of the human genome can play an important role in …

A copy number variation map of the human genome

M Zarrei, JR MacDonald, D Merico… - Nature reviews …, 2015 - nature.com
A major contribution to the genome variability among individuals comes from deletions and
duplications—collectively termed copy number variations (CNVs)—which alter the diploid …

New insights into the generation and role of de novo mutations in health and disease

R Acuna-Hidalgo, JA Veltman, A Hoischen - Genome biology, 2016 - Springer
Aside from inheriting half of the genome of each of our parents, we are born with a small
number of novel mutations that occurred during gametogenesis and postzygotically. Recent …

DNA copy number variation: Main characteristics, evolutionary significance, and pathological aspects

O Pös, J Radvanszky, G Buglyó, Z Pös… - Biomedical …, 2021 - pmc.ncbi.nlm.nih.gov
Copy number variants (CNVs) were the subject of extensive research in the past years. They
are common features of the human genome that play an important role in evolution …

Genetic variation, comparative genomics, and the diagnosis of disease

EE Eichler - New England Journal of Medicine, 2019 - Mass Medical Soc
Uncharted Regions of the Human Genome The genome is not akin to a string of fixed length.
Many large segments of DNA may be present or absent—a major contributor to pathogenic …