ArticleJCO precision oncology2018
Inference of Germline Mutational Status and Evaluation of Loss of Heterozygosity in High-Depth, Tumor-Only Sequencing Data.
Article in JCO precision oncology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
What it found
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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
19 citing papers in PubMed, 31 citations in OpenAlex.
- Trial
- Impaired Chromatin Remodeling Predicts Better Survival to Modified Gemcitabine and S-1 plus Nivolumab in Advanced Biliary Tract Cancer: A Phase II T1219 Study.Clinical cancer research : an official journal of the American Association for Cancer Research · 2022Trial
- VAF-tumor content graph: a simple visual framework for interpreting hereditary cancer variants and supporting genetic counseling in tumor-only sequencing.Journal of human genetics · 2026Article
- Clinical decisions in clonal hematopoiesis: a contemporary review for clinicians.Haematologica · 2026Review
- Monoallelic expression characterizes a distinct molecular and clinical group of breast tumors.Research square · 2026Article
- Genetic Alterations in HER2-Positive and Equivocal Breast Cancer by Immunohistochemistry.Breast cancer (Dove Medical Press) · 2025Article
- Prevalence of germline variants in Brazilian pancreatic carcinoma patients.Scientific reports · 2024Article
- Comprehensive genomic profiling and therapeutic implications for Taiwanese patients with treatment-naïve breast cancer.Cancer medicine · 2024Article
- Prevalence of BRCA1, BRCA2, and PALB2 genomic alterations among 924 Taiwanese breast cancer assays with tumor-only targeted sequencing: extended data analysis from the VGH-TAYLOR study.Breast cancer research : BCR · 2023Article
- Germline mechanisms of immunotherapy toxicities in the era of genome-wide association studies.Immunological reviews · 2023Review
- Clinical Quality in Cancer Research: Strategy to Assess Data Integrity of Germline Variants Inferred from Tumor-Only Testing Sequencing Data.Pharmaceutical medicine · 2021Article
- Article
- Germline Testing Data Validate Inferences of Mutational Status for Variants Detected From Tumor-Only Sequencing.JCO precision oncology · 2021Article
- Using next-generation sequencing to redefine BRCAness in triple-negative breast cancer.Cancer science · 2020Article
- All-FIT: allele-frequency-based imputation of tumor purity from high-depth sequencing data.Bioinformatics (Oxford, England) · 2020Article
- Germline Testing for Patients WithJNCI cancer spectrum · 2020Article
- Clonal Evolution ofCells · 2019Article
- Detection of Three Distinct Clonal Populations Using Circulating Cell Free DNA: A Cautionary Note on the Use of Liquid Biopsy.JCO precision oncology · 2019Article
- RET rearrangements are actionable alterations in breast cancer.Nature communications · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
19 authors at 1 institution in 1 country.
Funding
Abstract
purposeInherited germline defects are implicated in up to 10% of human tumors, with particularly well-known roles in breast and ovarian cancers that harbor
methodsLOHGIC (LOH-Germline Inference Calculator) is a statistical model selection method to determine somatic-versus-germline status and predict LOH for mutations identified via clinical grade, high-depth, hybrid-capture tumor-only sequencing. LOHGIC incorporates statistical uncertainties inherent to HTS as well as specimen biases in tumor purity estimates, which we use to assess
resultsEvaluation of LOHGIC with available germline sequencing from
conclusionLOHGIC can assess LOH status for both germline and somatic mutations. It also can be applied to any gene with candidate, inherited mutations. This approach demonstrates the clinical utility of targeted sequencing in both identifying patients with potential germline alterations in tumor suppressor genes as well as estimating LOH occurrence in cancer cells, which may confer therapeutic relevance.
Identifiers
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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.