eCollection 2020. The corresponding author and co-authors can nominate up to ten colleagues to receive a publication alert and free online access to the article. All mutations found in human cancers are compiled in the IARC TP53 Database (http://www-p53.iarc.fr/). Applications of the human p53 knock-in (Hupki) mouse model for human carcinogen testing. Austin, TX: Pro-ed. NOTE: Human Mutation supports Molecular Genetics & Genomic Medicine (MGGM), a Wiley Open Access interdisciplinary journal that publishes quality research in human, medical and molecular genetics. graphs and charts) are supplied in black and white so that they are legible if printed by a reader in black and white. The file resulting from this check containing each variant noted in your manuscript must be included in your submission (as a supplementary file for review but not publication). Note, this journal uses iThenticates CrossCheck software to detect instances of overlapping and similar text in submitted manuscripts. These must be disclosed when directly relevant or directly related to the work that the authors describe in their manuscript. Supporting information is information that is not essential to the article, but provides greater depth and background. Authors do not need to provide a copy of the consent form to the publisher; however, in signing the author license to publish, authors are required to confirm that consent has been obtained. Examine important genotype/phenotype relationships, especially in context of multiple variants, SNPs, and/or novel gene(s), in single-gene disorders or complex diseases. EndNote users can download the style here. Authors are responsible for the accuracy of their funder designation. X and Y should be considered joint first author or X and Y should be considered joint senior author.. MGGM is supported by this and numerous other journals published by Wiley; a complete list is available here. Sci Rep. 2020 Oct 1;10(1):16255. doi: 10.1038/s41598-020-73229-3. Olivier M, Goldgar DE, Sodha N, Ohgaki H, Kleihues P, Hainaut P, Eeles RA. Apply large-scale mutation and polymorphism detection or screening techniques for clinical diagnosis and counseling. Authors have final approval of changes prior to publication. 2020 Aug 28;10:1744. doi: 10.3389/fonc.2020.01744. Only published papers and those in press may be included in the reference list. Highlight identification and use of variants in forensics, disease diagnosis, tissue typing, and cancer. If accepted for publication in MGGM, a Wiley Open Access journal, authors receive a 20% discount on the associated Article Publication Charge (APC). Report datasets having potential for broad interest and usage among the research community. Once the submission materials have been prepared in accordance with the Author Guidelines, manuscripts should be submitted via the journals ScholarOne site: https://mc.manuscriptcentral.com/humu. 2016 Sep;37(9):865-76. doi: 10.1002/humu.23035. If you cannot share the data described in your manuscript, for example for legal or ethical reasons, or do not intend to share the data, then you must provide the appropriate data availability statement. It is hosted online and appears without editing or typesetting. Somatic mutations in the TP53 gene are one of the most frequent alterations in human cancers, and germline mutations are the underlying cause of Li-Fraumeni syndrome, which predisposes to a wide spectrum of early-onset cancers. The submission of masked photos without sufficient deidentification is strongly discouraged (i.e., facial photographs with only small dark geometric shapes over the eyes are insufficient). Beneficial mutation #3: Malaria resistance The classic example of evolutionary change in humans is the hemoglobin mutation named HbS that makes red blood cells take on a curved, sickle-like shape. Please visit https://varnomen.hgvs.org for the latest nomenclature updates, for examples of acceptable nomenclature, guidance concerning reference sequences, or if you have further questions. Genetic Medicine, Genetic Engineering, Journal of Genetic Mutation Disorders, Mutation Research/Genetic Toxicology and Environmental Mutagenesis, European Journal of Human Genetics, Genetics in Medicine, Human Mutation, Human Molecular Genetics, Genetic mutations Journals, Journal of Genetic Counseling, Longdom Group SA Avenue Roger Vandendriessche, 18, 1150 Brussels, Belgium Phone: +34 911 877 608Email: [emailprotected]. Papers will only be sent to review if the Editors determine that the paper meets the appropriate quality and relevance requirements. 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Enter your email address below and we will send you your username, If the address matches an existing account you will receive an email with instructions to retrieve your username, Editorial Policies and Ethical Considerations, authorservices.wiley.com/statements/data-protection-policy, http://authorservices.wiley.com/bauthor/english_language.asp, Bureau International des Poids et Mesures (BIPM) website, Please read the editorial by den Dunnen (2019), https://www.force11.org/group/fairgroup/fairprinciples, available here from Wiley Author Services, https://www.force11.org/datacitationprinciples, US Federal Policy for the Protection of Human Subjects, European Medicines Agency Guidelines for Good Clinical Practice, Guide for the Care and Use of Laboratory Animals, Policy on Humane Care and Use of Laboratory Animals, Animals (Scientific Procedures) Act 1986 Amendment Regulations (SI 2012/3039), Future of Research Communications and e-Scholarship (FORCE11), National Research Council's Institute for Laboratory Animal Research guidelines, The Gold Standard Publication Checklist from Hooijmans and colleagues, Minimum Information Guidelines from Diverse Bioscience Communities (MIBBI) website, https://onlinelibrary.wiley.com/doi/full/10.1002/humu.22981, https://github.com/mutalyzer/mutalyzer/wiki/Mutalyzer_explain.pdf, https://variantvalidator.org/batch_instructions/, http://varnomen.hgvs.org/bg-material/refseq/, www.crossref.org/services/funder-registry, Virtual Issue: Recommendations and Standards for the Reporting and Databasing of Genetic Variations. 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