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Journal: Human Genetics ×Author: Li-e Liu ×Clear All Filters
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Human Genetics · 2025 · Vol. 144 · Issue 2-3 · Springer
Regular, systematic, and independent assessments of computational tools that are used to predict the pathogenicity of missense variants are necessary to evaluate their clinical and research utility and guide future improvements. The Critical Assessment of Genome Interpretation (CAGI) conducts the ongoing Annotate-All-Missense (Missense Marathon) challenge, in which missense variant effect predictors (also called variant impact...
Human Genetics · 2023 · Vol. 142 · Issue 8 · Springer
Epidemiological studies demonstrate an association between migraine and chronic kidney disease (CKD), while the genetic basis underlying the phenotypic association has not been investigated. We aimed to help avoid unnecessary interventions in individuals with migraine through the investigation of phenotypic and genetic relationships underlying migraine, CKD, and kidney function. We first evaluated phenotypic associations using...
Human Genetics · 2015 · Vol. 134 · Issue 2 · Springer
Luis G. Carvajal-Carmona; Tracy A. O’Mara; Jodie N. Painter; Felicity A. Lose; Joe Dennis; Kyriaki Michailidou; Jonathan P. Tyrer; Shahana Ahmed; Kaltin Ferguson; Catherine S. Healey; Karen Pooley; Jonathan Beesley; Timothy Cheng; Angela Jones; Kimberley Howarth; Lynn Martin; Maggie Gorman; Shirley Hodgson; Nicholas Wentzensen; Peter A. Fasching; Alexander Hein; Matthias W. Beckmann; Stefan P. Renner; Thilo Dörk; Peter Hillemanns; Matthias Dürst; Ingo Runnebaum; Diether Lambrechts; Lieve Coenegrachts; Stefanie Schrauwen; Frederic Amant; Boris Winterhoff; Sean C. Dowdy; Ellen L. Goode; Attila Teoman; Helga B. Salvesen; Jone Trovik; Tormund S. Njolstad; Henrica M. J. Werner; Rodney J. Scott; Katie Ashton; Tony Proietto; Geoffrey Otton; Ofra Wersäll; Miriam Mints; Emma Tham; Per Hall; Kamila Czene; Jianjun Liu; Jingmei Li; John L. Hopper; Melissa C. Southey; Arif B. Ekici; Matthias Ruebner; Nichola Johnson; Julian Peto; Barbara Burwinkel; Frederik Marme; Hermann Brenner; Aida K. Dieffenbach; Alfons Meindl; Hiltrud Brauch; Annika Lindblom; Jeroen Depreeuw; Matthieu Moisse; Jenny Chang-Claude; Anja Rudolph; Fergus J. Couch; Janet E. Olson; Graham G. Giles; Fiona Bruinsma; Julie M. Cunningham; Brooke L. Fridley; Anne-Lise Børresen-Dale; Vessela N. Kristensen; Angela Cox; Anthony J. Swerdlow; Nicholas Orr; Manjeet K. Bolla; Qin Wang; Rachel Palmieri Weber; Zhihua Chen; Mitul Shah; Paul D. P. Pharoah; Alison M. Dunning; Ian Tomlinson; Douglas F. Easton; Amanda B. Spurdle; Deborah J. Thompson