Double Heterozygous Pathogenic Variants in TP53 and CHEK2 in Boy with Undifferentiated Embryonal Sarcoma of the Liver.

Autor: Kuhlen M; Pediatrics and Adolescent Medicine, Faculty of Medicine, University of Augsburg, 86156 Augsburg, Germany., Schaller T; Pathology, Faculty of Medicine, University of Augsburg, 86156 Augsburg, Germany., Dintner S; Pathology, Faculty of Medicine, University of Augsburg, 86156 Augsburg, Germany., Stadler N; Pediatrics and Adolescent Medicine, Faculty of Medicine, University of Augsburg, 86156 Augsburg, Germany., Hofmann TG; Institute of Toxicology, University Medical Center of the Johannes Gutenberg University Mainz, 55131 Mainz, Germany., Schmutz M; Hematology and Oncology, Faculty of Medicine, University of Augsburg, 86156 Augsburg, Germany., Claus R; Pathology, Faculty of Medicine, University of Augsburg, 86156 Augsburg, Germany.; Comprehensive Cancer Center Augsburg, Faculty of Medicine, University of Augsburg, 86156 Augsburg, Germany., Frühwald MC; Pediatrics and Adolescent Medicine, Faculty of Medicine, University of Augsburg, 86156 Augsburg, Germany., Golas MM; Human Genetics, Faculty of Medicine, University of Augsburg, 86156 Augsburg, Germany.

Publikováno v: International journal of molecular sciences [Int J Mol Sci] 2024 Oct 25; Vol. 25 (21). Date of Electronic Publication: 2024 Oct 25.

Best practices for germline variant and DNA methylation analysis of second- and third-generation sequencing data.

Autor: Bonfiglio F; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Naples, Italy.; CEINGE Advanced Biotechnology Franco Salvatore, Naples, Italy., Legati A; Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Lasorsa VA; CEINGE Advanced Biotechnology Franco Salvatore, Naples, Italy., Palombo F; Programma Di Neurogenetica, IRCCS Istituto Delle Scienze Neurologiche Di Bologna, Bologna, Italy., De Riso G; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Naples, Italy.; CEINGE Advanced Biotechnology Franco Salvatore, Naples, Italy., Isidori F; IRCCS Azienda Ospedaliero-Universitaria Di Bologna, Bologna, Italy., Russo S; Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy.; Laboratorio di Ricerca di Citogenetica Medica e Genetica Molecolare, Istituto Auxologico Italiano, IRCCS, 20145, Milano, Italy., Furini S; Department of Electrical, Electronic and Information Engineering 'Guglielmo Marconi', University of Bologna, Bologna, Italy., Merla G; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Naples, Italy., Coppedè F; Department of Translational Research and of New Surgical and Medical Technologies, University of Pisa, Pisa, Italy., Tartaglia M; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Bruselles A; Department of Oncology and Molecular Medicine, Istituto Superiore Di Sanità, Rome, Italy., Pippucci T; IRCCS Azienda Ospedaliero-Universitaria Di Bologna, Bologna, Italy., Ciolfi A; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Pinelli M; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Naples, Italy.; CEINGE Advanced Biotechnology Franco Salvatore, Naples, Italy., Capasso M; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Naples, Italy. mario.capasso@unina.it.; CEINGE Advanced Biotechnology Franco Salvatore, Naples, Italy. mario.capasso@unina.it.

Publikováno v: Human genomics [Hum Genomics] 2024 Nov 05; Vol. 18 (1), pp. 120. Date of Electronic Publication: 2024 Nov 05.

Comparing the Diagnostic Yield of Germline Exome Versus Panel Sequencing in the Diverse Population of the Texas KidsCanSeq Pediatric Cancer Study.

Autor: Desrosiers-Battu LR; Baylor College of Medicine, Houston, TX.; Texas Children's Hospital, Houston, TX., Wang T; Baylor College of Medicine, Houston, TX., Reuther J; Baylor College of Medicine, Houston, TX.; Texas Children's Hospital, Houston, TX., Miles G; Baylor College of Medicine, Houston, TX.; Texas Children's Hospital, Houston, TX., Dai H; Baylor College of Medicine, Houston, TX.; Baylor Genetics, Houston, TX., Jo E; Baylor College of Medicine, Houston, TX., Russell H; Baylor College of Medicine, Houston, TX.; Texas Children's Hospital, Houston, TX., Raesz-Martinez R; Baylor College of Medicine, Houston, TX.; Texas Children's Hospital, Houston, TX., Recinos A; Baylor College of Medicine, Houston, TX.; Texas Children's Hospital, Houston, TX., Gutierrez S; Baylor College of Medicine, Houston, TX.; Texas Children's Hospital, Houston, TX., Thomas A; Cook Children's Hospital, Fort Worth, TX., Berenson E; UT Health San Antonio, San Antonio, TX., Corredor J; University of Texas MD Anderson Cancer Center, Houston, TX., Nugent K; Baylor College of Medicine, Houston, TX.; CHRISTUS Children's Hospital (formerly Children's Hospital of San Antonio), San Antonio, TX., Wyatt Castillo R; UT Health San Antonio, San Antonio, TX., Althaus R; Cook Children's Hospital, Fort Worth, TX., Littlejohn R; Baylor College of Medicine, Houston, TX.; CHRISTUS Children's Hospital (formerly Children's Hospital of San Antonio), San Antonio, TX., Gessay S; UT Health San Antonio, San Antonio, TX., Tomlinson G; UT Health San Antonio, San Antonio, TX., Gill J; University of Texas MD Anderson Cancer Center, Houston, TX., Bernini JC; Baylor College of Medicine, Houston, TX.; Vannie Cook Children's Clinic, McAllen, TX., Vallance K; Cook Children's Hospital, Fort Worth, TX., Griffin T; Baylor College of Medicine, Houston, TX.; CHRISTUS Children's Hospital (formerly Children's Hospital of San Antonio), San Antonio, TX., Scollon S; Baylor College of Medicine, Houston, TX.; Texas Children's Hospital, Houston, TX., Lin FY; Baylor College of Medicine, Houston, TX.; Texas Children's Hospital, Houston, TX., Eng C; Baylor College of Medicine, Houston, TX.; Baylor Genetics, Houston, TX., Kulkarni S; Baylor College of Medicine, Houston, TX.; Baylor Genetics, Houston, TX.; University of Texas MD Anderson Cancer Center, Houston, TX., Hilsenbeck SG; Baylor College of Medicine, Houston, TX., Roy A; Baylor College of Medicine, Houston, TX.; Texas Children's Hospital, Houston, TX., McGuire AL; Baylor College of Medicine, Houston, TX., Parsons DW; Baylor College of Medicine, Houston, TX.; Texas Children's Hospital, Houston, TX., Plon SE; Baylor College of Medicine, Houston, TX.; Texas Children's Hospital, Houston, TX.

Publikováno v: JCO precision oncology [JCO Precis Oncol] 2024 Sep; Vol. 8, pp. e2400187.

The Evolutionary Interplay of Somatic and Germline Mutation Rates.

Autor: Beichman AC; Department of Genome Sciences, University of Washington, Seattle, Washington, USA; email: harriske@uw.edu., Zhu L; Department of Bioengineering, University of Washington, Seattle, Washington, USA., Harris K; Computational Biology Division, Fred Hutchinson Cancer Center, Seattle, Washington, USA.; Department of Genome Sciences, University of Washington, Seattle, Washington, USA; email: harriske@uw.edu.

Publikováno v: Annual review of biomedical data science [Annu Rev Biomed Data Sci] 2024 Aug; Vol. 7 (1), pp. 83-105. Date of Electronic Publication: 2024 Jul 24.

Germline Exome Sequencing for Men with Testicular Germ Cell Tumor Reveals Coding Defects in Chromosomal Segregation and Protein-targeting Genes.

Autor: Pyle LC; Rare Disease Institute, Center for Genetic Medicine, Children's National Hospital, Washington, DC, USA; Department of Precision Medicine, George Washington University, Washington, DC, USA; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Kim J; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA., Bradfield J; Quantinuum Research LLC, Philadelphia, PA, USA., Damrauer SM; Department of Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., D'Andrea K; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Einhorn LH; Simon Cancer Center, Indiana University, Indianapolis, IN, USA., Godse R; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Hakonarson H; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Kanetsky PA; Department of Cancer Epidemiology, H. Lee Moffitt Cancer Center and Research Institute, Tampa, FL, USA., Kember RL; Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Jacobs LA; Abramson Cancer Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA; Division of Hematology/Oncology, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Maxwell KN; Abramson Cancer Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA; Division of Hematology/Oncology, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Rader DJ; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Vaughn DJ; Abramson Cancer Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA; Division of Hematology/Oncology, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Weathers B; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Wubbenhorst B; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Regeneron Genetics Center Research Team; Regeneron Genetics, Terrytown, NY, USA., Cancer Genomics Research Laboratory; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA., Greene MH; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA., Nathanson KL; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA; Abramson Cancer Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Stewart DR; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA. Electronic address: drstewart@mail.nih.gov.

Publikováno v: European urology [Eur Urol] 2024 Apr; Vol. 85 (4), pp. 337-345. Date of Electronic Publication: 2023 May 26.