ArticleCell reports2018
Reliability of Whole-Exome Sequencing for Assessing Intratumor Genetic Heterogeneity.
Article in Cell reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 68 papers, 1 of them a synthesis that pooled it.
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Who cites it
68 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Intratumor Heterogeneity as a Prognostic Factor in Solid Tumors: A Systematic Review and Meta-Analysis.Frontiers in oncology · 2021Pooled it
- Analysis of Pre- and Posttreatment Tissues from the SWOG S0800 Trial Reveals an Effect of Neoadjuvant Chemotherapy on the Breast Cancer Genome.Clinical cancer research : an official journal of the American Association for Cancer Research · 2020Trial
- Tumor mutation burden and circulating tumor DNA in combined CTLA-4 and PD-1 antibody therapy in metastatic melanoma - results of a prospective biomarker study.Journal for immunotherapy of cancer · 2019Trial
- Multiomics analysis of the molecular and single-cell responses of rice after deep-space flight on Chang'e-5.Nature communications · 2026Article
- Clinical decisions in clonal hematopoiesis: a contemporary review for clinicians.Haematologica · 2026Review
- Homologous recombination deficiency and hemizygosity drive resistance in breast cancer.Nature · 2026Article
- Heteroresistance inFrontiers in cellular and infection microbiology · 2026Review
- Reply to: Oligoclonality of TRBC1 and TRBC2 in T cell lymphomas as mechanism of primary resistance to TRBC-directed CAR T cell therapies.Nature communications · 2025Article
- Spatial deconvolution from bulk DNA methylation profiles determines intratumoral epigenetic heterogeneity.Cell & bioscience · 2025Article
- Translating the multifaceted use of liquid biopsy to management of early disease in pancreatic adenocarcinoma.Frontiers in oncology · 2025Review
- A cost-effective and scalable approach for DNA extraction from FFPE tissues.Biology methods & protocols · 2025Article
- Precise identification of somatic and germline variants in the absence of matched normal samples.Briefings in bioinformatics · 2024Article
- Temporal Genomic Analysis of Homogeneous Tumor Models Reveals Key Regulators of Immune Evasion in Melanoma.Cancer discovery · 2024Article
- Article
- Unlocking the power of multi-institutional data: Integrating and harmonizing genomic data across institutions.Biometrics · 2024Article
- Genomic Insights into Idiopathic Granulomatous Mastitis through Whole-Exome Sequencing: A Case Report of Eight Patients.International journal of molecular sciences · 2024Article
- Low-level brain somatic mutations in exonic regions are collectively implicated in autism with germline mutations in autism risk genes.Experimental & molecular medicine · 2024Article
- Rare subclonal sequencing of breast cancers indicates putative metastatic driver mutations are predominately acquired after dissemination.Genome medicine · 2024Article
- Review
- Assessing the impact of sequencing platforms and analytical pipelines on whole-exome sequencing.Frontiers in genetics · 2024Article
8 more citing papers are in PubMed but not listed here.
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Authors and funding
14 authors.
Funding
Abstract
Multi-region sequencing is used to detect intratumor genetic heterogeneity (ITGH) in tumors. To assess whether genuine ITGH can be distinguished from sequencing artifacts, we performed whole-exome sequencing (WES) on three anatomically distinct regions of the same tumor with technical replicates to estimate technical noise. Somatic variants were detected with three different WES pipelines and subsequently validated by high-depth amplicon sequencing. The cancer-only pipeline was unreliable, with about 69% of the identified somatic variants being false positive. Even with matched normal DNA for which 82% of the somatic variants were detected reliably, only 36%-78% were found consistently in technical replicate pairs. Overall, 34%-80% of the discordant somatic variants, which could be interpreted as ITGH, were found to constitute technical noise. Excluding mutations affecting low-mappability regions or occurring in certain mutational contexts was found to reduce artifacts, yet detection of subclonal mutations by WES in the absence of orthogonal validation remains unreliable.
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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.