cancer risk phenotype

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Mentioned in (16)

Papers in which this entity is mentioned.

• Functional analysis of cancer-associated germline risk variants. (2025)
• Three-dimensional genome landscape of primary human cancers. (2025)
• CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods. (2024)
• RNA splicing dysregulation and the hallmarks of cancer. (2023)
• Single-cell analysis of somatic mutations in human bronchial epithelial cells in relation to aging and smoking. (2022)
• The pro-apoptotic Bax gene modifies susceptibility to craniofacial dysmorphology following gastrulation-stage alcohol exposure. (2022)
• Integrating molecular profiles into clinical frameworks through the Molecular Oncology Almanac to prospectively guide precision oncology. (2021)
• Detection and characterization of lung cancer using cell-free DNA fragmentomes. (2021)
• Prenatal alcohol exposure disrupts Sonic hedgehog pathway and primary cilia genes in the mouse neural tube. (2021)
• Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors. (2020)
• Thymic involution and rising disease incidence with age. (2018)
• A method to reduce ancestry related germline false positives in tumor only somatic variant calling. (2017)
• Clinical Assessment and Diagnosis of Germline Predisposition to Hematopoietic Malignancies: The University of Chicago Experience. (2017)
• Association of germline variants in the APOBEC3 region with cancer risk and enrichment with APOBEC-signature mutations in tumors. (2016)
• Development and clinical application of an integrative genomic approach to personalized cancer therapy. (2016)
• Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. (2008)

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