Meiotic recombination: the essence of heredity
N Hunter - Cold Spring Harbor perspectives in biology, 2015 - cshperspectives.cshlp.org
The study of homologous recombination has its historical roots in meiosis. In this context,
recombination occurs as a programmed event that culminates in the formation of crossovers …
recombination occurs as a programmed event that culminates in the formation of crossovers …
Structural variation in the human genome and its role in disease
During the last quarter of the twentieth century, our knowledge about human genetic
variation was limited mainly to the heterochromatin polymorphisms, large enough to be …
variation was limited mainly to the heterochromatin polymorphisms, large enough to be …
Global variation in copy number in the human genome
Copy number variation (CNV) of DNA sequences is functionally significant but has yet to be
fully ascertained. We have constructed a first-generation CNV map of the human genome …
fully ascertained. We have constructed a first-generation CNV map of the human genome …
Genome architecture, rearrangements and genomic disorders
An increasing number of human diseases are recognized to result from recurrent DNA
rearrangements involving unstable genomic regions. These are termed genomic disorders …
rearrangements involving unstable genomic regions. These are termed genomic disorders …
Segmental duplications and copy-number variation in the human genome
AJ Sharp, DP Locke, SD McGrath, Z Cheng… - The American Journal of …, 2005 - cell.com
The human genome contains numerous blocks of highly homologous duplicated sequence.
This higher-order architecture provides a substrate for recombination and recurrent …
This higher-order architecture provides a substrate for recombination and recurrent …
Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits
JR Lupski - Trends in genetics, 1998 - cell.com
Molecular medicine began with Pauling's seminal work, which recognized sickle-cell
anemia as a molecular disease, and with Ingram's demonstration of a specific chemical …
anemia as a molecular disease, and with Ingram's demonstration of a specific chemical …
Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes
Rearrangements of our genome can be responsible for inherited as well as sporadic traits.
The analyses of chromosome breakpoints in the proximal short arm of Chromosome 17 …
The analyses of chromosome breakpoints in the proximal short arm of Chromosome 17 …
Chromosome 22-specific low copy repeats and the 22q11. 2 deletion syndrome: genomic organization and deletion endpoint analysis
The 22q11. 2 deletion syndrome, which includes DiGeorge and velocardiofacial syndromes
(DGS/VCFS), is the most common microdeletion syndrome. The majority of deleted patients …
(DGS/VCFS), is the most common microdeletion syndrome. The majority of deleted patients …
[HTML][HTML] Exome sequence analysis suggests that genetic burden contributes to phenotypic variability and complex neuropathy
Summary Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous
distal symmetric polyneuropathy. Whole-exome sequencing (WES) of 40 individuals from 37 …
distal symmetric polyneuropathy. Whole-exome sequencing (WES) of 40 individuals from 37 …
Cognitive performance among carriers of pathogenic copy number variants: analysis of 152,000 UK Biobank subjects
Abstract Background The UK Biobank is a unique resource for biomedical research, with
extensive phenotypic and genetic data on half a million adults from the general population …
extensive phenotypic and genetic data on half a million adults from the general population …