CONIPHER: a computational framework for scalable phylogenetic reconstruction with error correction

K Grigoriadis, A Huebner, A Bunkum, E Colliver… - Nature …, 2024 - nature.com
Intratumor heterogeneity provides the fuel for the evolution and selection of subclonal tumor
cell populations. However, accurate inference of tumor subclonal architecture and …

The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations

A Villani, S Davidson, N Kanwar, WW Lo, Y Li… - Nature Cancer, 2023 - nature.com
We conducted integrative somatic–germline analyses by deeply sequencing 864 cancer-
associated genes, complete genomes and transcriptomes for 300 mostly previously treated …

Late-stage metastatic melanoma emerges through a diversity of evolutionary pathways

L Spain, A Coulton, I Lobon, A Rowan, D Schnidrig… - Cancer discovery, 2023 - AACR
Understanding the evolutionary pathways to metastasis and resistance to immune-
checkpoint inhibitors (ICI) in melanoma is critical for improving outcomes. Here, we present …

Germline TP53 mutations undergo copy number gain years prior to tumor diagnosis

N Light, M Layeghifard, A Attery, V Subasri… - Nature …, 2023 - nature.com
Li-Fraumeni syndrome (LFS) is a hereditary cancer predisposition syndrome associated with
germline TP53 pathogenic variants. Here, we perform whole-genome sequence (WGS) …

Cancer phylogenetic inference using copy number alterations detected from DNA sequencing data

B Lu - Cancer Pathogenesis and Therapy, 2024 - mednexus.org
Cancer is an evolutionary process involving the accumulation of diverse somatic mutations
and clonal evolution over time. Phylogenetic inference from samples obtained from an …

Joint inference of cell lineage and mitochondrial evolution from single-cell sequencing data

P Sashittal, V Chen, A Pasarkar, BJ Raphael - Bioinformatics, 2024 - academic.oup.com
Motivation Eukaryotic cells contain organelles called mitochondria that have their own
genome. Most cells contain thousands of mitochondria which replicate, even in nondividing …

A regression based approach to phylogenetic reconstruction from multi-sample bulk DNA sequencing of tumors

H Schmidt, BJ Raphael - PLOS Computational Biology, 2024 - journals.plos.org
Motivation DNA sequencing of multiple bulk samples from a tumor provides the opportunity
to investigate tumor heterogeneity and reconstruct a phylogeny of a patient's cancer …

[HTML][HTML] Inferring cancer type-specific patterns of metastatic spread

D Koyyalagunta, K Ganesh, Q Morris - bioRxiv, 2024 - pmc.ncbi.nlm.nih.gov
The metastatic spread of a cancer can be reconstructed from DNA sequencing of primary
and metastatic tumours, but doing so requires solving a challenging combinatorial …

[HTML][HTML] Reconstructing cancer phylogenies using Pairtree, a clone tree reconstruction algorithm

E Kulman, J Wintersinger, Q Morris - STAR protocols, 2022 - Elsevier
Pairtree is a clone tree reconstruction algorithm that uses somatic point mutations to build
clone trees describing the evolutionary history of individual cancers. Using the Pairtree …

Determining Optimal Placement of Copy Number Aberration Impacted Single Nucleotide Variants in a Tumor Progression History

CH Wu, S Joshi, W Robinson, PF Robbins… - … on Research in …, 2024 - Springer
Intratumoral heterogeneity arises as a result of genetically distinct subclones emerging
during tumor progression. These subclones are characterized by various types of somatic …