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 …

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 …

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 …

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 …

Post-selection inference for changepoint detection algorithms with application to copy number variation data

S Hyun, KZ Lin, M G'Sell, RJ Tibshirani - Biometrics, 2021 - academic.oup.com
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 …

[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 …

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 …

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 …

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 …

[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 …