Computational analysis of cancer genome sequencing data

I Cortés-Ciriano, DC Gulhan, JJK Lee… - Nature Reviews …, 2022 - nature.com
Distilling biologically meaningful information from cancer genome sequencing data requires
comprehensive identification of somatic alterations using rigorous computational methods …

CNVkit: genome-wide copy number detection and visualization from targeted DNA sequencing

E Talevich, AH Shain, T Botton… - PLoS computational …, 2016 - journals.plos.org
Germline copy number variants (CNVs) and somatic copy number alterations (SCNAs) are
of significant importance in syndromic conditions and cancer. Massively parallel sequencing …

[HTML][HTML] Using R and bioconductor in clinical genomics and transcriptomics

JL Sepulveda - The Journal of Molecular Diagnostics, 2020 - Elsevier
Bioinformatics pipelines are essential in the analysis of genomic and transcriptomic data
generated by next-generation sequencing (NGS). Recent guidelines emphasize the need …

[HTML][HTML] Proteogenomic characterization identifies clinically relevant subgroups of intrahepatic cholangiocarcinoma

L Dong, D Lu, R Chen, Y Lin, H Zhu, Z Zhang, S Cai… - Cancer cell, 2022 - cell.com
We performed proteogenomic characterization of intrahepatic cholangiocarcinoma (iCCA)
using paired tumor and adjacent liver tissues from 262 patients. Integrated proteogenomic …

Human glioblastoma arises from subventricular zone cells with low-level driver mutations

JH Lee, JE Lee, JY Kahng, SH Kim, JS Park, SJ Yoon… - Nature, 2018 - nature.com
Glioblastoma (GBM) is a devastating and incurable brain tumour, with a median overall
survival of fifteen months,. Identifying the cell of origin that harbours mutations that drive …

Proteogenomic analysis of human colon cancer reveals new therapeutic opportunities

S Vasaikar, C Huang, X Wang, VA Petyuk, SR Savage… - Cell, 2019 - cell.com
We performed the first proteogenomic study on a prospectively collected colon cancer
cohort. Comparative proteomic and phosphoproteomic analysis of paired tumor and normal …

Mutant clones in normal epithelium outcompete and eliminate emerging tumours

B Colom, A Herms, MWJ Hall, SC Dentro, C King… - Nature, 2021 - nature.com
Human epithelial tissues accumulate cancer-driver mutations with age,,,,,,,–, yet tumour
formation remains rare. The positive selection of these mutations suggests that they alter the …

[HTML][HTML] Heterogeneous tumor-immune microenvironments among differentially growing metastases in an ovarian cancer patient

A Jiménez-Sánchez, D Memon, S Pourpe… - Cell, 2017 - cell.com
We present an exceptional case of a patient with high-grade serous ovarian cancer, treated
with multiple chemotherapy regimens, who exhibited regression of some metastatic lesions …

A biobank of breast cancer explants with preserved intra-tumor heterogeneity to screen anticancer compounds

A Bruna, OM Rueda, W Greenwood, AS Batra… - Cell, 2016 - cell.com
The inter-and intra-tumor heterogeneity of breast cancer needs to be adequately captured in
pre-clinical models. We have created a large collection of breast cancer patient-derived …

Preserved genetic diversity in organoids cultured from biopsies of human colorectal cancer metastases

F Weeber, M Van De Wetering… - Proceedings of the …, 2015 - National Acad Sciences
Tumor organoids are 3D cultures of cancer cells. They can be derived from the tumor of
each individual patient, thereby providing an attractive ex vivo assay to tailor treatment …