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Leveraging sequences missing from the human genome to diagnose cancer.

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Title: Leveraging sequences missing from the human genome to diagnose cancer.
Authors: Georgakopoulos-Soares I; Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, CA, USA. izg5139@psu.edu.; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA. izg5139@psu.edu.; Institute for Personalized Medicine, Department of Molecular and Precision Medicine, The Pennsylvania State University College of Medicine, Hershey, PA, USA. izg5139@psu.edu., Yizhar-Barnea O; Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, CA, USA.; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA., Mouratidis I; Institute for Personalized Medicine, Department of Molecular and Precision Medicine, The Pennsylvania State University College of Medicine, Hershey, PA, USA.; Huck Institutes of the Life Sciences, Penn State University, University Park, PA, USA., Chan CSY; Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, CA, USA.; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA., Patsakis M; Institute for Personalized Medicine, Department of Molecular and Precision Medicine, The Pennsylvania State University College of Medicine, Hershey, PA, USA., Nayak A; Institute for Personalized Medicine, Department of Molecular and Precision Medicine, The Pennsylvania State University College of Medicine, Hershey, PA, USA., Bradley R; Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, CA, USA.; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA., Mahajan M; The Gene Lay Institute of Immunology and Inflammation, Brigham and Women's Hospital, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA., Sims J; Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, CA, USA.; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA., Cintron DL; Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, CA, USA.; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA., Easterlin R; Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, CA, USA.; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA., Kim JS; Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, CA, USA.; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA., Chen E; Department of Epidemiology and Biostatistics, University of California San Francisco, San Francisco, CA, USA., Pineda G; Division of Gynecologic Oncology, University of California San Francisco, San Francisco, CA, USA., Parada GE; Donnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, ON, Canada., Witte JS; Department of Epidemiology and Biostatistics, University of California San Francisco, San Francisco, CA, USA.; Department of Epidemiology and Population Health, Stanford University, Stanford, CA, USA., Maher CA; Division of Oncology, Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO, USA.; Siteman Cancer Center, Washington University School of Medicine, St. Louis, MO, USA.; Department of Biomedical Engineering, Washington University School of Medicine, St. Louis, MO, USA., Feng F; Division of Hematology/Oncology, Department of Medicine, University of California San Francisco, San Francisco, CA, USA.; Helen Diller Comprehensive Cancer Center, University of California San Francisco, San Francisco, CA, USA.; Department of Radiation Oncology, University of California San Francisco, San Francisco, CA, USA.; Department of Urology, University of California San Francisco, San Francisco, CA, USA., Vathiotis I; Third Department of Internal Medicine, Sotiria Hospital, National and Kapodistrian University of Athens, School of Medicine, Athens, Greece.; Department of Pathology, Yale School of Medicine, New Haven, CT, USA., Syrigos N; Third Department of Internal Medicine, Sotiria Hospital, National and Kapodistrian University of Athens, School of Medicine, Athens, Greece.; Breast Oncology, Dana-Farber Brigham Cancer Center, Boston, MA, USA., Panagiotou E; Third Department of Internal Medicine, Sotiria Hospital, National and Kapodistrian University of Athens, School of Medicine, Athens, Greece., Charpidou A; Third Department of Internal Medicine, Sotiria Hospital, National and Kapodistrian University of Athens, School of Medicine, Athens, Greece., Syrigos K; Third Department of Internal Medicine, Sotiria Hospital, National and Kapodistrian University of Athens, School of Medicine, Athens, Greece., Chapman J; Helen Diller Comprehensive Cancer Center, University of California San Francisco, San Francisco, CA, USA.; Department of Urology, University of California San Francisco, San Francisco, CA, USA., Kvale M; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.; Kaiser Permanente, Oakland, CA, USA., Hemberg M; The Gene Lay Institute of Immunology and Inflammation, Brigham and Women's Hospital, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA. mhemberg@bwh.harvard.edu.; Wellcome Sanger Institute, Hinxton, Cambridge, UK. mhemberg@bwh.harvard.edu., Ahituv N; Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, CA, USA. nadav.ahituv@ucsf.edu.; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA. nadav.ahituv@ucsf.edu.; Helen Diller Family Comprehensive Cancer Center, University of California San Francisco, San Francisco, CA, USA. nadav.ahituv@ucsf.edu.
Source: Communications medicine [Commun Med (Lond)] 2025 Aug 21; Vol. 5 (1), pp. 363. Date of Electronic Publication: 2025 Aug 21.
Publication Type: Journal Article
Journal Info: Publisher: Nature Portfolio Country of Publication: England NLM ID: 9918250414506676 Publication Model: Electronic Cited Medium: Internet ISSN: 2730-664X (Electronic) Linking ISSN: 2730664X NLM ISO Abbreviation: Commun Med (Lond) Subsets: PubMed not MEDLINE
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  Data: <searchLink fieldCode="AU" term="%22Georgakopoulos-Soares+I%22">Georgakopoulos-Soares I</searchLink>; Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, CA, USA. izg5139@psu.edu.; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA. izg5139@psu.edu.; Institute for Personalized Medicine, Department of Molecular and Precision Medicine, The Pennsylvania State University College of Medicine, Hershey, PA, USA. izg5139@psu.edu.<br /><searchLink fieldCode="AU" term="%22Yizhar-Barnea+O%22">Yizhar-Barnea O</searchLink>; Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, CA, USA.; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.<br /><searchLink fieldCode="AU" term="%22Mouratidis+I%22">Mouratidis I</searchLink>; Institute for Personalized Medicine, Department of Molecular and Precision Medicine, The Pennsylvania State University College of Medicine, Hershey, PA, USA.; 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Department of Epidemiology and Population Health, Stanford University, Stanford, CA, USA.<br /><searchLink fieldCode="AU" term="%22Maher+CA%22">Maher CA</searchLink>; Division of Oncology, Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO, USA.; Siteman Cancer Center, Washington University School of Medicine, St. Louis, MO, USA.; Department of Biomedical Engineering, Washington University School of Medicine, St. Louis, MO, USA.<br /><searchLink fieldCode="AU" term="%22Feng+F%22">Feng F</searchLink>; Division of Hematology/Oncology, Department of Medicine, University of California San Francisco, San Francisco, CA, USA.; Helen Diller Comprehensive Cancer Center, University of California San Francisco, San Francisco, CA, USA.; Department of Radiation Oncology, University of California San Francisco, San Francisco, CA, USA.; Department of Urology, University of California San Francisco, San Francisco, CA, USA.<br /><searchLink fieldCode="AU" term="%22Vathiotis+I%22">Vathiotis I</searchLink>; Third Department of Internal Medicine, Sotiria Hospital, National and Kapodistrian University of Athens, School of Medicine, Athens, Greece.; Department of Pathology, Yale School of Medicine, New Haven, CT, USA.<br /><searchLink fieldCode="AU" term="%22Syrigos+N%22">Syrigos N</searchLink>; Third Department of Internal Medicine, Sotiria Hospital, National and Kapodistrian University of Athens, School of Medicine, Athens, Greece.; Breast Oncology, Dana-Farber Brigham Cancer Center, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Panagiotou+E%22">Panagiotou E</searchLink>; Third Department of Internal Medicine, Sotiria Hospital, National and Kapodistrian University of Athens, School of Medicine, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Charpidou+A%22">Charpidou A</searchLink>; Third Department of Internal Medicine, Sotiria Hospital, National and Kapodistrian University of Athens, School of Medicine, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Syrigos+K%22">Syrigos K</searchLink>; Third Department of Internal Medicine, Sotiria Hospital, National and Kapodistrian University of Athens, School of Medicine, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Chapman+J%22">Chapman J</searchLink>; Helen Diller Comprehensive Cancer Center, University of California San Francisco, San Francisco, CA, USA.; Department of Urology, University of California San Francisco, San Francisco, CA, USA.<br /><searchLink fieldCode="AU" term="%22Kvale+M%22">Kvale M</searchLink>; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.; Kaiser Permanente, Oakland, CA, USA.<br /><searchLink fieldCode="AU" term="%22Hemberg+M%22">Hemberg M</searchLink>; The Gene Lay Institute of Immunology and Inflammation, Brigham and Women's Hospital, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA. mhemberg@bwh.harvard.edu.; Wellcome Sanger Institute, Hinxton, Cambridge, UK. mhemberg@bwh.harvard.edu.<br /><searchLink fieldCode="AU" term="%22Ahituv+N%22">Ahituv N</searchLink>; Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, CA, USA. nadav.ahituv@ucsf.edu.; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA. nadav.ahituv@ucsf.edu.; Helen Diller Family Comprehensive Cancer Center, University of California San Francisco, San Francisco, CA, USA. nadav.ahituv@ucsf.edu.
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