At least two well-spaced samples are needed to genotype a solid tumor

K Siegmund, D Shibata - BMC cancer, 2016 - Springer
Background Human cancers are often sequenced to identify mutations. However, cancers
are spatially heterogeneous populations with public mutations in all cells and private …

Non‐invasive prenatal testing (NIPT): Combination of copy number variant and gene analyses using an “in‐house” target enrichment next generation sequencing …

L Faldynová, S Walczysková, D Černá… - Prenatal …, 2023 - Wiley Online Library
Objective Recent studies have integrated copy number variant (CNV) and gene analysis
using target enrichment. Here, we transferred this concept to our routine genetics laboratory …

Deconstructing intratumoral heterogeneity through multiomic and multiscale analysis of serial sections

PG Schupp, SJ Shelton, DJ Brody, R Eliscu… - Cancers, 2024 - mdpi.com
Simple Summary Tumors contain cancerous cells with different mutations and different types
of non-cancerous cells. It is important to understand the molecular properties of these cells …

Copy number alterations associated with clinical features in an underrepresented population with breast cancer

RM Rodrigues‐Peres, B de S Carvalho… - … Genetics & Genomic …, 2019 - Wiley Online Library
Background As the most incident tumor among women worldwide, breast cancer is a
heterogeneous disease. Tremendous efforts have been made to understand how tumor …

Reporter-based screening identifies RAS-RAF stabilizing mutations as drivers of resistance to broad-spectrum RAS inhibition in colorectal cancer

O Aust, E Blanc, M Lüthen, V Hollek… - bioRxiv, 2024 - biorxiv.org
Secondary resistance limits the clinical effectiveness of mutation-specific RAS inhibitors in
colorectal cancer. It is unknown whether broad-spectrum RAS inhibitors meet similar …

CalMaTe: A method and software to improve allele-specific copy number of SNP arrays for downstream segmentation

M Ortiz-Estevez, A Aramburu, H Bengtsson… - …, 2012 - academic.oup.com
CalMaTe calibrates preprocessed allele-specific copy number estimates (ASCNs) from DNA
microarrays by controlling for single-nucleotide polymorphism-specific allelic crosstalk. The …

Fast detection of de novo copy number variants from SNP arrays for case-parent trios

RB Scharpf, TH Beaty, H Schwender, SG Younkin… - BMC …, 2012 - Springer
Background In studies of case-parent trios, we define copy number variants (CNVs) in the
offspring that differ from the parental copy numbers as de novo and of interest for their …

Deciphering clonality in aneuploid breast tumors using SNP array and sequencing data

IM Lönnstedt, F Caramia, J Li, D Fumagalli, R Salgado… - Genome biology, 2014 - Springer
Intra-tumor heterogeneity concerns the existence of genetically different subclones within
the same tumor. Single sample quantification of heterogeneity relies on precise …

Genome-wide association study of germline copy number variations reveals an association with prostate cancer aggressiveness

S Brezina, M Feigl, T Gumpenberger… - …, 2020 - academic.oup.com
Prostate cancer is a major health burden, being the second most commonly diagnosed
malignancy in men worldwide. Overtreatment represents a major problem in prostate cancer …

Bioinformatics tools and resources for cancer immunotherapy study

A Palmisano, J Krushkal, MC Li, J Fang… - … for Immunotherapy of …, 2020 - Springer
In recent years, cancer immunotherapy has emerged as a highly promising approach to treat
patients with cancer, as the patient's own immune system is harnessed to attack cancer …