Fetal fraction amplification within prenatal cfDNA screening enables detection of genome-wide copy-number variants at enhanced resolution.

Autor: Acevedo A; Myriad Genetics, Inc, Salt Lake City, UT., Teng O; Myriad Genetics, Inc, Salt Lake City, UT., LaBreche HG; Myriad Genetics, Inc, Salt Lake City, UT., Nguyen A; Myriad Genetics, Inc, Salt Lake City, UT., Jazo L; Myriad Genetics, Inc, Salt Lake City, UT., Hong SH; Myriad Genetics, Inc, Salt Lake City, UT., Suk J; Myriad Genetics, Inc, Salt Lake City, UT., Pierson S; Myriad Genetics, Inc, Salt Lake City, UT., Westover T; Maternal-Fetal Medicine and Perinatal Genetics, Capital Health, Cooper Medical School, Rowan University, Camden, NJ., Ratzel S; Myriad Genetics, Inc, Salt Lake City, UT., Haas KR; Myriad Genetics, Inc, Salt Lake City, UT., Muzzey D; Myriad Genetics, Inc, Salt Lake City, UT. Electronic address: dale.muzzey@myriad.com.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Nov 21, pp. 101269. Date of Electronic Publication: 2024 Nov 21.

Validation of a clinical breast cancer risk assessment tool combining a polygenic score for all ancestries with traditional risk factors.

Autor: Mabey B; Myriad Genetics, Inc., Salt Lake City, UT., Hughes E; Myriad Genetics, Inc., Salt Lake City, UT. Electronic address: ehughes@myriad.com., Kucera M; Myriad Genetics, Inc., Salt Lake City, UT., Simmons T; Myriad Genetics, Inc., Salt Lake City, UT., Hullinger B; Myriad Genetics, Inc., Salt Lake City, UT., Pederson HJ; Cleveland Clinic, Cleveland, OH., Yehia L; Cleveland Clinic, Cleveland, OH., Eng C; Cleveland Clinic, Cleveland, OH., Garber J; Dana-Farber Cancer Institute, Boston, MA., Gary M; Grand View Health, Sellersville, PA., Gordon O; Providence Health, Los Angeles, CA., Klemp JR; The University of Kansas Medical Center, Kansas City, KS., Mukherjee S; Memorial Sloan Kettering Cancer Center, New York, NY., Vijai J; Memorial Sloan Kettering Cancer Center, New York, NY., Offit K; Memorial Sloan Kettering Cancer Center, New York, NY., Olopade OI; University of Chicago, Chicago, IL., Pruthi S; Mayo Clinic, Rochester, MN., Kurian A; Stanford University School of Medicine, Stanford, CA., Robson ME; Memorial Sloan Kettering Cancer Center, New York, NY., Whitworth PW; Nashville Breast Center, Nashville, TN., Pal T; Vanderbilt University Medical Center, Nashville, TN., Ratzel S; Myriad Genetics, Inc., Salt Lake City, UT., Wagner S; Myriad Genetics, Inc., Salt Lake City, UT., Lanchbury JS; Myriad Genetics, Inc., Salt Lake City, UT., Taber KJ; Myriad Genetics, Inc., Salt Lake City, UT., Slavin TP; Myriad Genetics, Inc., Salt Lake City, UT., Gutin A; Myriad Genetics, Inc., Salt Lake City, UT.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Jul; Vol. 26 (7), pp. 101128. Date of Electronic Publication: 2024 Jun 03.

Euro+Med-Checklist Notulae, 14

Autor: von Raab-Straube, E., Raus, T., Bergmeier, E., Bienvenu, J., Byalt, V. V., Charalampidou, Ch., Custerevska, R., Di Pietro, R., Dimitrov, D. S., Eleftheriadou, E., Fateryga, A. V., Fateryga, V. V., Giannakis, Th., Iamonico, D., Krause, J., Mercade, A., Novak, P., Perez-Haase, A., Perna, M. R., Piwowarczyk, R., Ratzel, S., Raus, Th., Ristow, M., Ryff, L. E., Pedraja, O. S., Stoyanov, S., Svirin, S. A., Szokala, D., Theodoropoulos, K., Tsiftsis, S., Turland, N. J., Uhlich, H.

Publikováno v: Willdenowia. 51

This is the fourteenth of a series of miscellaneous contributions, by various authors, where hitherto unpublished data relevant to both the Med-Checklist and the Euro+Med (or Sisyphus) projects are presented. This instalment deals with the families A

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e9b27bd0914c86f9cd683e3f19c1686
https://doi.org/10.3372/wi.51.51304

Verifying nomenclature of DNA variants in submitted manuscripts: Guidance for journals.

Autor: Higgins J; American College of Medical Genetics and Genomics, Bethesda, Maryland, USA., Dalgleish R; Department of Genetics and Genome Biology, University of Leicester, Leicester, UK., den Dunnen JT; Human Genetics and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Barsh G; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA.; Department of Genetics, Stanford University, Stanford, California, USA., Freeman PJ; Division of Informatics, Imaging & Data Science, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK., Cooper DN; Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, UK., Cullinan S; American Society of Human Genetics, Rockville, Maryland, USA., Davies KE; Department of Physiology, Anatomy and Genetics, MDUK Oxford Neuromuscular Centre, University of Oxford, Oxford, UK., Dorkins H; St Peter's College, University of Oxford, Oxford, UK.; Department of Clinical Genetics, University Hospitals of Leicester NHS Trust, Leicester, UK., Gong L; Department of Biomedical Data Science, Stanford University, Stanford, California, USA., Imoto I; Division of Molecular Genetics, Aichi Cancer Center Research Institute, Nagoya, Japan., Klein TE; Department of Biomedical Data Science, Stanford University, Stanford, California, USA., Korf B; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA., Misra A; Public Library of Science, San Francisco, California, USA.; Public Library of Science, Cambridge, UK., Paalman MH; Cell and Molecular Biology Research, Wiley Periodicals LLC, Hoboken, New Jersey, USA., Ratzel S; American Society of Human Genetics, Rockville, Maryland, USA., Reichardt JKV; Australian Institute of Tropical Health and Medicine, James Cook University, Smithfield, Queensland, Australia., Rehm HL; Medical & Population Genetics Program and Genomics Platform, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Department of Pathology, Harvard Medical School, Boston, Massachusetts, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA., Tokunaga K; Department of Biomedical Data Science, Stanford University, Stanford, California, USA.; Genome Medical Science Project, National Center for Global Health and Medicine, Tokyo, Japan., Weck KE; Department of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.; Department of Genetics and Medicine, School of Medicine, University of North Carolina, Chapel Hill, North Carolina, USA., Cutting GR; Department of Genetic Medicine, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

Publikováno v: Human mutation [Hum Mutat] 2021 Jan; Vol. 42 (1), pp. 3-7. Date of Electronic Publication: 2020 Dec 10.

Perspective on Ratzel's Political Geography (Book).

Autor: Martin, Geoffrey J.¹

Publikováno v: Professional Geographer. Feb85, Vol. 37 Issue 1, p120-120. 2/3p.