ArticleNature communications2020
Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples.
Article in Nature communications, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 34 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
34 citing papers in PubMed, 52 citations in OpenAlex.
- Microbiome-Genome Crosstalk in Colorectal Cancer: Colibactin Signatures andInternational journal of molecular sciences · 2026Review
- GATES: A Lightweight Tool Automating Pathogenic Variant Discovery From Raw Whole-Exome Sequencing Data.Cancer informatics · 2026Article
- Case Report: Hereditary thrombotic thrombocytopenic purpura mimicking immune thrombocytopenia: diagnostic pitfalls of whole-exome sequencing.Frontiers in pediatrics · 2026Article
- scFFPE-ATAC enables high-throughput single cell chromatin accessibility profiling in formalin-fixed paraffin-embedded samples.Nature communications · 2025Article
- Advances in Precision Oncology: From Molecular Profiling to Regulatory-Approved Targeted Therapies.Cancers · 2025Review
- Research on the process and molecular mechanism of inhibiting serous ovarian cancer by PRTN3 and its inhibitor Sivelestat.Journal of ovarian research · 2025Article
- Article
- UNISOM: Unified Somatic Calling and Machine Learning-based Classification Enhance the Discovery of CHIP.Genomics, proteomics & bioinformatics · 2025Article
- Dynamic clustering of genomics cohorts beyond race, ethnicity-and ancestry.BMC medical genomics · 2025Article
- Molecular tumor board in patients with metastatic breast cancer.Breast cancer research and treatment · 2025Article
- The potential clinical utility of Whole Genome Sequencing for patients with cancer: evaluation of a regional implementation of the 100,000 Genomes Project.British journal of cancer · 2024Article
- Evaluation of whole genome sequencing utility in identifying driver alterations in cancer genome.Scientific reports · 2024Article
- [The collaborative project "Personalized medicine for oncology" (PM4Onco) as part of the Medical Informatics Initiative (MII)].Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz · 2024Article
- Review
- Whole genome sequencing in clinical practice.BMC medical genomics · 2024Review
- Shining a light on the dark proteome: Non-canonical open reading frames and their encoded miniproteins as a new frontier in cancer biology.Protein science : a publication of the Protein Society · 2023Review
- Article
- Consensus Statements on Precision Oncology in the China Greater Bay Area.JCO precision oncology · 2023Article
- Cancer secretome: finding out hidden messages in extracellular secretions.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2023Review
- The genomic landscape across 474 surgically accessible epileptogenic human brain lesions.Brain : a journal of neurology · 2023Article
Corrections and comments
- Erratum issued
Authors and funding
21 authors at 20 institutions in 36 countries.
Funding
Abstract
The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) curated consensus somatic mutation calls using whole exome sequencing (WES) and whole genome sequencing (WGS), respectively. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2,658 cancers across 38 tumour types, we compare WES and WGS side-by-side from 746 TCGA samples, finding that ~80% of mutations overlap in covered exonic regions. We estimate that low variant allele fraction (VAF < 15%) and clonal heterogeneity contribute up to 68% of private WGS mutations and 71% of private WES mutations. We observe that ~30% of private WGS mutations trace to mutations identified by a single variant caller in WES consensus efforts. WGS captures both ~50% more variation in exonic regions and un-observed mutations in loci with variable GC-content. Together, our analysis highlights technological divergences between two reproducible somatic variant detection efforts.
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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.