Computational methods for allele-specific expression in single cells

G Qi, A Battle - Trends in Genetics, 2024 - cell.com
Allele-specific expression (ASE) is a powerful signal that can be used to investigate multiple
molecular mechanisms, such as cis-regulatory effects and imprinting. Single-cell RNA …

Integrative spatial and genomic analysis of tumor heterogeneity with Tumoroscope

S Shafighi, A Geras, B Jurzysta, A Sahaf Naeini… - Nature …, 2024 - nature.com
Spatial and genomic heterogeneity of tumors are crucial factors influencing cancer
progression, treatment, and survival. However, a technology for direct mapping the clones in …

A Bayesian framework to study tumor subclone–specific expression by combining bulk DNA and single-cell RNA sequencing data

Y Qiao, X Huang, PJ Moos, JM Ahmann… - Genome …, 2024 - genome.cshlp.org
Genetic and gene expression heterogeneity is an essential hallmark of many tumors,
allowing the cancer to evolve and to develop resistance to treatment. Currently, the most …

CaClust: linking genotype to transcriptional heterogeneity of follicular lymphoma using BCR and exomic variants

K Oksza-Orzechowski, E Quinten, S Shafighi… - Genome Biology, 2024 - Springer
Tumours exhibit high genotypic and transcriptional heterogeneity. Both affect cancer
progression and treatment, but have been predominantly studied separately in follicular …

CopyVAE: a variational autoencoder-based approach for copy number variation inference using single-cell transcriptomics

S Kurt, M Chen, H Toosi, X Chen, C Engblom… - …, 2024 - academic.oup.com
Abstract Motivation Copy number variations (CNVs) are common genetic alterations in
tumour cells. The delineation of CNVs holds promise for enhancing our comprehension of …

Echidna: A Bayesian framework for quantifying gene dosage effect impacting phenotypic plasticity

JL Fan, M Zhang, WG O'Brien, JD Myers, JC Melms… - bioRxiv, 2024 - biorxiv.org
Phenotypic plasticity, the ability of cells to adapt their behavior in response to genetic or
environmental changes, is a fundamental biological process that drives cellular diversity in …

Scuphr: A probabilistic framework for cell lineage tree reconstruction

H Koptagel, SH Jun, J Hård… - PLOS Computational …, 2024 - journals.plos.org
Cell lineage tree reconstruction methods are developed for various tasks, such as
investigating the development, differentiation, and cancer progression. Single-cell …

Deconvolution and Phylogeny Inference of Diverse Variant Types Integrating Bulk DNA-seq with Single-cell RNA-seq

NA Bristy, R Schwartz - bioRxiv, 2025 - biorxiv.org
Motivation: Reconstructing clonal lineage trees (" tumor phylogenetics") has become a core
tool of cancer genomics. Earlier approaches based on bulk DNA sequencing (DNA-seq) …

Probabilistic subclonal reconstruction for cancer

J Kim - 2022 - ideals.illinois.edu
Cancer consists of genetically heterogeneous populations of cells that arise through a
process of subclonal evolution. Reconstructing the evolutionary processes that give rise to …

Phylogenetic inference from single-cell RNA-seq data

X Liu, JI Griffiths, I Bishara, J Liu, AH Bild, JT Chang - Scientific Reports, 2023 - nature.com
Tumors are comprised of subpopulations of cancer cells that harbor distinct genetic profiles
and phenotypes that evolve over time and during treatment. By reconstructing the course of …