Pan-cancer analysis of somatic copy-number alterations implicates IRS4 and IGF2 in enhancer hijacking

J Weischenfeldt, T Dubash, AP Drainas, BR Mardin… - Nature …, 2017 - nature.com
Extensive prior research focused on somatic copy-number alterations (SCNAs) affecting
cancer genes, yet the extent to which recurrent SCNAs exert their influence through …

Absolute quantification of somatic DNA alterations in human cancer

SL Carter, K Cibulskis, E Helman, A McKenna… - Nature …, 2012 - nature.com
We describe a computational method that infers tumor purity and malignant cell ploidy
directly from analysis of somatic DNA alterations. The method, named ABSOLUTE, can …

Machine learning based big data processing framework for cancer diagnosis using hidden Markov model and GM clustering

G Manogaran, V Vijayakumar, R Varatharajan… - Wireless personal …, 2018 - Springer
The change in the DNA is a form of genetic variation in the human genome. In addition, the
DNA copy number change is also linked with the progression of many emerging diseases …

Allele-specific copy number analysis of tumors

P Van Loo, SH Nordgard… - Proceedings of the …, 2010 - National Acad Sciences
We present an allele-specific copy number analysis of the in vivo breast cancer genome. We
describe a unique bioinformatics approach, ASCAT (allele-specific copy number analysis of …

Dual CDK4/CDK6 inhibition induces cell-cycle arrest and senescence in neuroblastoma

JA Rader, MR Russell, LS Hart, MS Nakazawa… - Clinical cancer …, 2013 - AACR
Purpose: Neuroblastoma is a pediatric cancer that continues to exact significant morbidity
and mortality. Recently, a number of cell-cycle proteins, particularly those within the Cyclin …

The growing importance of CNVs: new insights for detection and clinical interpretation

A Valsesia, A Macé, S Jacquemont… - Frontiers in …, 2013 - frontiersin.org
Differences between genomes can be due to single nucleotide variants, translocations,
inversions, and copy number variants (CNVs, gain or loss of DNA). The latter can range from …

THetA: inferring intra-tumor heterogeneity from high-throughput DNA sequencing data

L Oesper, A Mahmoody, BJ Raphael - Genome biology, 2013 - Springer
Tumor samples are typically heterogeneous, containing admixture by normal, non-
cancerous cells and one or more subpopulations of cancerous cells. Whole-genome …

Integrative genomics identifies LMO1 as a neuroblastoma oncogene

K Wang, SJ Diskin, H Zhang, EF Attiyeh, C Winter… - Nature, 2011 - nature.com
Neuroblastoma is a childhood cancer of the sympathetic nervous system that accounts for
approximately 10% of all paediatric oncology deaths,. To identify genetic risk factors for …

Genome Alteration Print (GAP): a tool to visualize and mine complex cancer genomic profiles obtained by SNP arrays

T Popova, E Manié, D Stoppa-Lyonnet, G Rigaill… - Genome biology, 2009 - Springer
We describe a method for automatic detection of absolute segmental copy numbers and
genotype status in complex cancer genome profiles measured with single-nucleotide …

Inheritance of somatic mutations by animal offspring

KL Vasquez Kuntz, SA Kitchen, TL Conn… - Science …, 2022 - science.org
Since 1892, it has been widely assumed that somatic mutations are evolutionarily irrelevant
in animals because they cannot be inherited by offspring. However, some nonbilaterians …