Large copy-number variants in UK Biobank caused by clonal hematopoiesis may confound penetrance estimates
Large copy-number variants (CNVs) are strongly associated with both developmental delay
and cancer, but the type of disease depends strongly on when and where the mutation …
and cancer, but the type of disease depends strongly on when and where the mutation …
Low‐pass whole genome sequencing is a reliable and cost‐effective approach for copy number variant analysis in the clinical setting
PC Mazzonetto, D Villela, SS da Costa… - Annals of Human …, 2024 - Wiley Online Library
Introduction Next generation sequencing technology has greatly reduced the cost and time
required for sequencing a genome. An approach that is rapidly being adopted as an …
required for sequencing a genome. An approach that is rapidly being adopted as an …
Detectable clonal mosaicism from birth to old age and its relationship to cancer
We detected clonal mosaicism for large chromosomal anomalies (duplications, deletions
and uniparental disomy) using SNP microarray data from over 50,000 subjects recruited for …
and uniparental disomy) using SNP microarray data from over 50,000 subjects recruited for …
Large-scale copy number variants (CNVs): distribution in normal subjects and FISH/real-time qPCR analysis
Background Genomic copy number variants (CNVs) involving> 1 kb of DNA have recently
been found to be widely distributed throughout the human genome. They represent a newly …
been found to be widely distributed throughout the human genome. They represent a newly …
De novo copy number variants and parental age: Is there an association?
I Wadhawan, Y Hai, NF Yousefi, X Guo… - European Journal of …, 2020 - Elsevier
Purpose To investigate whether increased parental age is associated with an increased risk
for de novo copy number variant (CNV) formation in offspring. Methods CNV calls from 2323 …
for de novo copy number variant (CNV) formation in offspring. Methods CNV calls from 2323 …
The impact of human copy number variation on a new era of genetic testing
Please cite this paper as: Choy K, Setlur S, Lee C, Lau T. The impact of human copy number
variation on a new era of genetic testing. BJOG 2010; 117: 391–397. Cytogenetic studies …
variation on a new era of genetic testing. BJOG 2010; 117: 391–397. Cytogenetic studies …
Discovery of variants unmasked by hemizygous deletions
R Hochstenbach, M Poot, IJ Nijman… - European journal of …, 2012 - nature.com
Array-based genome-wide segmental aneuploidy screening detects both de novo and
inherited copy number variations (CNVs). In sporadic patients de novo CNVs are interpreted …
inherited copy number variations (CNVs). In sporadic patients de novo CNVs are interpreted …
The causality of de novo copy number variants is overestimated
JR Vermeesch, I Balikova… - European journal of …, 2011 - nature.com
The application of array CGH or chromosomal microarrays is causing a revolutionary
change in clinical genetics and especially cytogenetics, as it enables the genome wide …
change in clinical genetics and especially cytogenetics, as it enables the genome wide …
Population analysis of large copy number variants and hotspots of human genetic disease
Copy number variants (CNVs) contribute to human genetic and phenotypic diversity.
However, the distribution of larger CNVs in the general population remains largely …
However, the distribution of larger CNVs in the general population remains largely …
Assessment of megabase-scale somatic copy number variation using single-cell sequencing
Megabase-scale copy number variants (CNVs) can have profound phenotypic
consequences. Germline CNVs of this magnitude are associated with disease and …
consequences. Germline CNVs of this magnitude are associated with disease and …