Extensive sequence duplication in Arabidopsis revealed by pseudo-heterozygosity

B Jaegle, R Pisupati, LM Soto-Jiménez, R Burns… - Genome Biology, 2023 - Springer
Background It is apparent that genomes harbor much structural variation that is largely
undetected for technical reasons. Such variation can cause artifacts when short-read …

Overexpression of Claspin and Timeless protects cancer cells from replication stress in a checkpoint-independent manner

JN Bianco, V Bergoglio, YL Lin, MJ Pillaire… - Nature …, 2019 - nature.com
Oncogene-induced replication stress (RS) promotes cancer development but also impedes
tumor growth by activating anti-cancer barriers. To determine how cancer cells adapt to RS …

Lineage-specific gene duplication and loss in human and great ape evolution

A Fortna, Y Kim, E MacLaren, K Marshall, G Hahn… - PLoS …, 2004 - journals.plos.org
Given that gene duplication is a major driving force of evolutionary change and the key
mechanism underlying the emergence of new genes and biological processes, this study …

Genomic microarrays in human genetic disease and cancer

DG Albertson, D Pinkel - Human molecular genetics, 2003 - academic.oup.com
Alterations in the genome that lead to changes in DNA sequence copy number are a
characteristic of solid tumors and are found in association with developmental abnormalities …

Hidden Markov models approach to the analysis of array CGH data

J Fridlyand, AM Snijders, D Pinkel, DG Albertson… - Journal of multivariate …, 2004 - Elsevier
The development of solid tumors is associated with acquisition of complex genetic
alterations, indicating that failures in the mechanisms that maintain the integrity of the …

Whole genome analysis of genetic alterations in small DNA samples using hyperbranched strand displacement amplification and array–CGH

JM Lage, JH Leamon, T Pejovic, S Hamann… - Genome …, 2003 - genome.cshlp.org
Structural genetic alterations in cancer often involve gene loss or gene amplification. With
the advent of microarray approaches for the analysis of the genome, as exemplified by array …

Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome

DP Locke, AJ Sharp, SA McCarroll, SD McGrath… - The American journal of …, 2006 - cell.com
Studies of copy-number variation and linkage disequilibrium (LD) have typically excluded
complex regions of the genome that are rich in duplications and prone to rearrangement. In …

Genome-wide DNA copy number alterations in head and neck squamous cell carcinomas with or without oncogene-expressing human papillomavirus

SJ Smeets, BJM Braakhuis, S Abbas, PJF Snijders… - Oncogene, 2006 - nature.com
Oncogene-expressing human papillomavirus type 16 (HPV16) is found in a subset of head
and neck squamous cell carcinomas (HNSCC). HPV16 drives carcinogenesis by …

Comparative genomic hybridization using oligonucleotide microarrays and total genomic DNA

MT Barrett, A Scheffer, A Ben-Dor… - Proceedings of the …, 2004 - National Acad Sciences
Array-based comparative genomic hybridization (CGH) measures copy-number variations at
multiple loci simultaneously, providing an important tool for studying cancer and …

Rare amplicons implicate frequent deregulation of cell fate specification pathways in oral squamous cell carcinoma

AM Snijders, BL Schmidt, J Fridlyand, N Dekker… - Oncogene, 2005 - nature.com
Genomes of solid tumors are characterized by gains and losses of regions, which may
contribute to tumorigenesis by altering gene expression. Often the aberrations are extensive …