ArticleGenome research2017
Single-cell sequencing data reveal widespread recurrence and loss of mutational hits in the life histories of tumors.
Article in Genome research, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 76 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
76 citing papers in PubMed.
- Clonal selection of somatic mutations shapes NK cell memory.bioRxiv : the preprint server for biology · 2026Article
- Theoretical estimates on the expected number of mutations needed to reconstruct clonal lineage trees.Bioinformatics advances · 2026Article
- General-purpose topology-aware embedding of tumor phylogenetic trees with graph neural networks.Bioinformatics advances · 2026Article
- LncRNA C9orf139 Promotes Acute Myeloid Leukemia Cell Proliferation by Sponging miR-24-3p to Upregulate TAOK1.Current medical science · 2025Article
- Evolution and Co-occurrence of PI3K Pathway Gene Mutations in Endometrial Carcinoma Molecular Subtypes at the Single-Cell Level.Clinical cancer research : an official journal of the American Association for Cancer Research · 2025Article
- Sc-TUSV-Ext: Single-Cell Clonal Lineage Inference from Single Nucleotide Variants, Copy Number Alterations, and Structural Variants.Journal of computational biology : a journal of computational molecular cell biology · 2025Article
- Bayesian inference of fitness landscapes via tree-structured branching processes.Bioinformatics (Oxford, England) · 2025Article
- Single-cell mutational burden distributions in birth-death processes.PLoS computational biology · 2025Article
- Protocol for high-quality RNA sequencing, cell surface protein analysis, and genotyping in single cells using TARGET-seq.STAR protocols · 2025Article
- Single-cell copy number calling and event history reconstruction.Bioinformatics (Oxford, England) · 2025Article
- Single-cell DNA and surface protein characterization of high hyperdiploid acute lymphoblastic leukemia at diagnosis and during treatment.HemaSphere · 2025Article
- OncotreeVIS-an interactive graphical user interface for visualizing mutation tree cohorts.Bioinformatics advances · 2025Article
- Mutation order in acute myeloid leukemia identifies uncommon patterns of evolution and illuminates phenotypic heterogeneity.Leukemia · 2024Article
- ConDoR: tumor phylogeny inference with a copy-number constrained mutation loss model.Genome biology · 2023Article
- Evolutionary signatures of human cancers revealed via genomic analysis of over 35,000 patients.Nature communications · 2023Article
- Single-cell phylogenies reveal changes in the evolutionary rate within cancer and healthy tissues.Cell genomics · 2023Article
- COMPASS: joint copy number and mutation phylogeny reconstruction from amplicon single-cell sequencing data.Nature communications · 2023Article
- Joint inference of exclusivity patterns and recurrent trajectories from tumor mutation trees.Nature communications · 2023Article
- Application of high-throughput single-nucleus DNA sequencing in pancreatic cancer.Nature communications · 2023Article
- Review
16 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors.
Funding
Abstract
Intra-tumor heterogeneity poses substantial challenges for cancer treatment. A tumor's composition can be deduced by reconstructing its mutational history. Central to current approaches is the infinite sites assumption that every genomic position can only mutate once over the lifetime of a tumor. The validity of this assumption has never been quantitatively assessed. We developed a rigorous statistical framework to test the infinite sites assumption with single-cell sequencing data. Our framework accounts for the high noise and contamination present in such data. We found strong evidence for the same genomic position being mutationally affected multiple times in individual tumors for 11 of 12 single-cell sequencing data sets from a variety of human cancers. Seven cases involved the loss of earlier mutations, five of which occurred at sites unaffected by large-scale genomic deletions. Four cases exhibited a parallel mutation, potentially indicating convergent evolution at the base pair level. Our results refute the general validity of the infinite sites assumption and indicate that more complex models are needed to adequately quantify intra-tumor heterogeneity for more effective cancer treatment.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.