Free-access copy-number variant detection tools for targeted next-generation sequencing data
I Roca, L González-Castro, H Fernández… - … Research/Reviews in …, 2019 - Elsevier
Copy number variants (CNVs) are intermediate-scale structural variants containing copy
number changes involving DNA fragments of between 1 kb and 5 Mb. Although known to …
number changes involving DNA fragments of between 1 kb and 5 Mb. Although known to …
Methods and compositions for determining ploidy
HE Kirkizlar, R Salari, S Sigurjonsson… - US Patent …, 2022 - Google Patents
The invention provides improved methods, compositions, and kits for detecting ploidy of
chromosome regions, eg for detecting cancer or a chromosomal abnormality in a gestating …
chromosome regions, eg for detecting cancer or a chromosomal abnormality in a gestating …
Genetic and phenotypic characteristics of pleomorphic lobular carcinoma in situ of the breast
YY Chen, ESS Hwang, R Roy, S DeVries… - The American journal …, 2009 - journals.lww.com
The clinical, pathologic, and molecular features of pleomorphic lobular carcinoma in situ
(PLCIS) and the relationship of PLCIS to classic LCIS (CLCIS) are poorly defined. In this …
(PLCIS) and the relationship of PLCIS to classic LCIS (CLCIS) are poorly defined. In this …
Application of microarray technology in environmental and comparative physiology
AY Gracey, AR Cossins - Annual Review of Physiology, 2003 - annualreviews.org
▪ Abstract DNA microarray technology is revolutionizing many aspects of biological research,
allowing the expression of many thousands of gene transcripts to be monitored …
allowing the expression of many thousands of gene transcripts to be monitored …
Post-selection inference for changepoint detection algorithms with application to copy number variation data
Changepoint detection methods are used in many areas of science and engineering, for
example, in the analysis of copy number variation data to detect abnormalities in copy …
example, in the analysis of copy number variation data to detect abnormalities in copy …
[PDF][PDF] High-resolution mapping of genotype-phenotype relationships in cri du chat syndrome using array comparative genomic hybridization
X Zhang, A Snijders, R Segraves, X Zhang… - The American Journal of …, 2005 - cell.com
We have used array comparative genomic hybridization to map DNA copy–number changes
in 94 patients with cri du chat syndrome who had been carefully evaluated for the presence …
in 94 patients with cri du chat syndrome who had been carefully evaluated for the presence …
Molecular profiling of giant cell tumor of bone and the osteoclastic localization of ligand for receptor activator of nuclear factor κB
T Morgan, GJ Atkins, MK Trivett, SA Johnson… - The American journal of …, 2005 - Elsevier
Giant cell tumor of bone (GCT) is a generally benign, osteolytic neoplasm comprising
stromal cells and osteoclast-like giant cells. The osteoclastic cells, which cause bony …
stromal cells and osteoclast-like giant cells. The osteoclastic cells, which cause bony …
Compositions and methods for identifying nucleic acid molecules
B Zimmermann, R Swenerton, M Rabinowitz… - US Patent …, 2018 - Google Patents
US10011870B2 - Compositions and methods for identifying nucleic acid molecules - Google
Patents US10011870B2 - Compositions and methods for identifying nucleic acid molecules …
Patents US10011870B2 - Compositions and methods for identifying nucleic acid molecules …
Compositions and methods for identifying nucleic acid molecules
B Zimmermann, R Swenerton, M Rabinowitz… - US Patent …, 2020 - Google Patents
US10577650B2 - Compositions and methods for identifying nucleic acid molecules - Google
Patents US10577650B2 - Compositions and methods for identifying nucleic acid molecules …
Patents US10577650B2 - Compositions and methods for identifying nucleic acid molecules …
[HTML][HTML] Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray
EL Baldwin, JY Lee, DM Blake, BP Bunke… - Genetics in …, 2008 - Elsevier
Purpose Array comparative genomic hybridization is rapidly becoming an integral part of
cytogenetic diagnostics. We report the design, validation, and clinical utility of an …
cytogenetic diagnostics. We report the design, validation, and clinical utility of an …