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 …

Understanding the genetic basis of variation in meiotic recombination: past, present, and future

SE Johnston - Molecular Biology and Evolution, 2024 - academic.oup.com
Meiotic recombination is a fundamental feature of sexually reproducing species. It is often
required for proper chromosome segregation and plays important role in adaptation and the …

Multi-platform discovery of haplotype-resolved structural variation in human genomes

MJP Chaisson, AD Sanders, X Zhao, A Malhotra… - Nature …, 2019 - nature.com
The incomplete identification of structural variants (SVs) from whole-genome sequencing
data limits studies of human genetic diversity and disease association. Here, we apply a …

Characterizing mutagenic effects of recombination through a sequence-level genetic map

BV Halldorsson, G Palsson, OA Stefansson, H Jonsson… - Science, 2019 - science.org
INTRODUCTION Diversity in the sequence of the human genome, arising from
recombinations and mutations, is fundamental to human evolution and human diversity …

[HTML][HTML] A map of human genome variation from population scale sequencing

1000 Genomes Project Consortium - Nature, 2010 - ncbi.nlm.nih.gov
Abstract The 1000 Genomes Project aims to provide a deep characterisation of human
genome sequence variation as a foundation for investigating the relationship between …

Single-cell multi-omics sequencing of human spermatogenesis reveals a DNA demethylation event associated with male meiotic recombination

Y Huang, L Li, G An, X Yang, M Cui, X Song, J Lin… - Nature Cell …, 2023 - nature.com
Human spermatogenesis is a highly ordered process; however, the roles of DNA
methylation and chromatin accessibility in this process remain largely unknown. Here by …

Meiotic recombination in mammals: localization and regulation

F Baudat, Y Imai, B De Massy - Nature Reviews Genetics, 2013 - nature.com
During meiosis, a programmed induction of DNA double-strand breaks (DSBs) leads to the
exchange of genetic material between homologous chromosomes. These exchanges …

Mechanism and regulation of meiotic recombination initiation

I Lam, S Keeney - Cold Spring Harbor perspectives in …, 2015 - cshperspectives.cshlp.org
Meiotic recombination involves the formation and repair of programmed DNA double-strand
breaks (DSBs) catalyzed by the conserved Spo11 protein. This review summarizes recent …

Control of meiotic crossovers: from double-strand break formation to designation

S Gray, PE Cohen - Annual review of genetics, 2016 - annualreviews.org
Meiosis, the mechanism of creating haploid gametes, is a complex cellular process
observed across sexually reproducing organisms. Fundamental to meiosis is the process of …

Origins and functional impact of copy number variation in the human genome

DF Conrad, D Pinto, R Redon, L Feuk, O Gokcumen… - Nature, 2010 - nature.com
Structural variations of DNA greater than 1 kilobase in size account for most bases that vary
among human genomes, but are still relatively under-ascertained. Here we use tiling …