Mapping rare protein-coding variants on multi-organ imaging traits.

Autor: Fan Y; Graduate Group in Applied Mathematics and Computational Science, University of Pennsylvania, Philadelphia, PA 19104, USA., Chen J; Department of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA., Fan Z; Department of Statistics and Data Science, University of Pennsylvania, Philadelphia, PA 19104, USA., Chirinos J; Division of Cardiovascular Medicine, Hospital of the University of Pennsylvania, Philadelphia, PA 19104, USA.; University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA., Stein JL; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.; UNC Neuroscience Center, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA., Sullivan PF; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA., Wang R; Regeneron Genetics Center, 777 Old Saw Mill River Rd., Tarrytown, NY, 10591, USA., Nadig A; Department of Biomedical Informatics, Harvard Medical School, Boston, MA 02115, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA., Zhang DY; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Huang S; Department of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA., Jiang Z; Department of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA., Guan PY; Department of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA., Qian X; Department of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA., Li T; Department of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA., Li H; Department of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA., Sun Z; Department of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA., Ritchie MD; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Institute for Biomedical Informatics, Perelman School of Medicine, University of Pennsylvania Philadelphia, PA 19104, USA., O'Brien J; Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.; Penn Medicine Center for Ophthalmic Genetics in Complex Diseases, Philadelphia, PA 19104, USA., Witschey W; Department of Radiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Rader DJ; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Li T; Department of Radiology, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.; Biomedical Research Imaging Center, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA., Zhu H; Department of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.; Biomedical Research Imaging Center, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.; Department of Computer Science, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.; Department of Statistics and Operations Research, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA., Zhao B; Graduate Group in Applied Mathematics and Computational Science, University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Statistics and Data Science, University of Pennsylvania, Philadelphia, PA 19104, USA.; Institute for Biomedical Informatics, Perelman School of Medicine, University of Pennsylvania Philadelphia, PA 19104, USA.; Center for AI and Data Science for Integrated Diagnostics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Population Aging Research Center, University of Pennsylvania, Philadelphia, PA 19104, USA.; Institute for Translational Medicine and Therapeutics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Penn Center for Eye-Brain Health, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.

Publikováno v: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Nov 18. Date of Electronic Publication: 2024 Nov 18.

Risk and protection of different rare protein-coding variants of complement component C4A in age-related macular degeneration

Autor: Johanna M. Seddon, Dikha De, William Casazza, Shun-Yun Cheng, Claudio Punzo, Mark Daly, Danlei Zhou, Samantha L. Coss, John P. Atkinson, Chack-Yung Yu

Publikováno v: Frontiers in Genetics, Vol 14 (2024)

Introduction: Age-related macular degeneration (AMD) is the leading cause of central vision loss in the elderly. One-third of the genetic contribution to this disease remains unexplained.Methods: We analyzed targeted sequencing data from two independ

Externí odkaz: https://doaj.org/article/b3376f1811e74e0083f92b034e76bf47

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Rare protein‐coding variants implicate genes involved in risk of suicide death

Autor: Emily DiBlasi, Douglas Gray, Andrey A. Shabalin, Qingqin S. Li, W. Brandon Callor, Anne V. Kirby, Nicola J. Camp, Ken R. Smith, Elliott Ferris, Anna R. Docherty, Michael Klein, Eoin Gaj, Eric T. Monson, Hilary Coon, Eli A. Stahl, Brooks R. Keeshin, Nancy William, Amanda V. Bakian, Zhe Yu, Leslie Jerominski, Danli Chen, Alison Fraser, Erik Christensen

Publikováno v: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 186:508-520

Identification of genetic factors leading to increased risk of suicide death is critical to combat rising suicide rates, however, only a fraction of the genetic variation influencing risk has been accounted for. To address this limitation, we conduct

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84330c64e1e8fb7fcbc82de57766dcc6
https://doi.org/10.1002/ajmg.b.32861

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.