A fast and accurate method to detect allelic genomic imbalances underlying mosaic rearrangements using SNP array data
JR González, B Rodríguez-Santiago, A Cáceres… - BMC …, 2011 - Springer
Background Mosaicism for copy number and copy neutral chromosomal rearrangements
has been recently identified as a relatively common source of genetic variation in the normal …
has been recently identified as a relatively common source of genetic variation in the normal …
Mosaic uniparental disomies and aneuploidies as large structural variants of the human genome
B Rodríguez-Santiago, N Malats, N Rothman… - The American Journal of …, 2010 - cell.com
Mosaicism is defined as the coexistence of cells with different genetic composition within an
individual, caused by postzygotic somatic mutation. Although somatic mosaicism for …
individual, caused by postzygotic somatic mutation. Although somatic mosaicism for …
Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10 362 consecutive cases
Somatic chromosomal mosaicism arising from post-zygotic errors is known to cause several
well-defined genetic syndromes as well as contribute to phenotypic variation in diseases …
well-defined genetic syndromes as well as contribute to phenotypic variation in diseases …
MosaicHunter: accurate detection of postzygotic single-nucleotide mosaicism through next-generation sequencing of unpaired, trio, and paired samples
Genomic mosaicism arising from postzygotic mutations has long been associated with
cancer and more recently with non-cancer diseases. It has also been detected in healthy …
cancer and more recently with non-cancer diseases. It has also been detected in healthy …
Detection of structural mosaicism from targeted and whole-genome sequencing data
Structural mosaic abnormalities are large post-zygotic mutations present in a subset of cells
and have been implicated in developmental disorders and cancer. Such mutations have …
and have been implicated in developmental disorders and cancer. Such mutations have …
Copy number variation and mosaicism
Mosaicism is the presence of cells within an organism that have a different genetic
composition despite deriving from a single zygote. The consequence of this depends on the …
composition despite deriving from a single zygote. The consequence of this depends on the …
Comparative genomic hybridization on microarray (a-CGH) in constitutional and acquired mosaicism may detect as low as 8% abnormal cells
R Valli, C Marletta, B Pressato, G Montalbano… - Molecular …, 2011 - Springer
Background The results of cytogenetic investigations on unbalanced chromosome
anomalies, both constitutional and acquired, were largely improved by comparative genomic …
anomalies, both constitutional and acquired, were largely improved by comparative genomic …
Detection of mosaicism for genome imbalance in a cohort of 3,042 clinical cases using an oligonucleotide array CGH platform
S Hoang, JW Ahn, K Mann, S Bint, S Mansour… - European Journal of …, 2011 - Elsevier
Mosaicism for chromosome imbalance has traditionally been detected by karyotype
analysis. The introduction of array CGH into clinical diagnostic laboratories and routine …
analysis. The introduction of array CGH into clinical diagnostic laboratories and routine …
Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis
I Feenstra, N Hanemaaijer… - European Journal of …, 2011 - nature.com
High-resolution genome-wide array analysis enables detailed screening for cryptic and
submicroscopic imbalances of microscopically balanced de novo rearrangements in …
submicroscopic imbalances of microscopically balanced de novo rearrangements in …
Genome-wide detection of somatic mosaicism at short tandem repeats
Results We introduce prancSTR, a novel method for detecting mosaic STRs from individual
high-throughput sequencing datasets. prancSTR is designed to detect loci characterized by …
high-throughput sequencing datasets. prancSTR is designed to detect loci characterized by …