Editorial Material
Multidisciplinary Sciences
Charles N. Rotimi, Adebowale A. Adeyemo
Summary: Over the past 20 years, the increasing diversity in genomic sequencing has provided valuable insights into our evolutionary history and health status.
Review
Biochemistry & Molecular Biology
Si Wu, Dijun Chen, Michael P. Snyder
Summary: With advances in high-throughput sequencing technologies, quantitative genetics approaches have provided insights into the genetic basis of complex diseases. The emergence of multi-omics profiling technologies has created exciting opportunities for investigating intricate interaction networks of biological molecules. Three main strategies for integrating quantitative genetics results with multi-omics data through network analysis have been reviewed, providing a deeper understanding of molecular mechanisms of complex diseases and guidance for therapeutic target discovery.
CURRENT OPINION IN CHEMICAL BIOLOGY
(2022)
Review
Genetics & Heredity
Evan M. Koch, Shamil R. Sunyaev
Summary: Numerous studies have found evidence of negative selection at GWAS loci, which is correlated with the effect size of identified variants but is not entirely mediated by the focal trait, also involving a pleiotropic component. Balancing models and empirical analyses are needed to understand how selective constraint shapes phenotypic variation, with recent findings shedding light on the importance of genetic relationships and the potential for GWAS measurements to be misleading due to changing effect sizes throughout human history.
FRONTIERS IN GENETICS
(2021)
Article
Physics, Fluids & Plasmas
Alexei Vazquez
Summary: Providing an abstract representation of natural and human complex structures is a challenging problem. Accounting for the system heterogenous components while allowing for analytical tractability is a difficult balance. Here, chygraphs are introduced as a unifying representation of complex systems that combines concepts from hypergraphs, multilayer networks, simplicial complexes, and hyperstructures. The applicability of chygraphs is illustrated through calculations of component sizes statistics and identification of the transition to a giant component. A vectorization technique is introduced to handle the multilevel nature of chygraphs. Chygraphs are concluded to provide analytical insight into complex systems.
Article
Multidisciplinary Sciences
Brooke Sheppard, Nadav Rappoport, Po-Ru Loh, Stephan J. Sanders, Noah Zaitlen, Andy Dahl
Summary: The study introduces a model for structured polygenic epistasis called Coordinated Epistasis (CE) and proves that several recent theories of genetic architecture fall under CE. By proposing the Even-Odd (EO) test and calibrating it in various realistic biological models, evidence of CE is found in 18 out of 26 traits in the UK Biobank. The study concludes that CE is a genetic architecture dimension capturing structured, systemic forms of epistasis in complex human traits.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Article
Genetics & Heredity
Kaili Yin, Xingxing Lei, Zhaofen Yan, Yujiao Yang, Qinqin Deng, Qiang Lu, Xue Zhang, Mengyang Wang, Qing Liu
Summary: This study analyzed the prevalence of pathogenic variants in DEPDC5, NPRL2, and NPRL3 genes and their role in modulating the mTOR pathway. It also defined the characteristics of GATOR1-associated epilepsy. The results showed that DEPDC5 variants were associated with focal seizures and a defect in mTOR inhibition.
JOURNAL OF MEDICAL GENETICS
(2023)
Article
Clinical Neurology
Anna K. Bonkhoff, Sungmin Hong, Martin Bretzner, Markus D. Schirmer, Robert W. Regenhardt, E. Murat Arsava, Kathleen Donahue, Marco Nardin, Adrian Dalca, Anne-Katrin Giese, Mark R. Etherton, Brandon L. Hancock, Steven J. T. Mocking, Elissa McIntosh, John Attia, Oscar Benavente, John W. Cole, Amanda Donatti, Christoph Griessenauer, Laura Heitsch, Lukas Holmegaard, Katarina Jood, Jordi Jimenez-Conde, Steven Kittner, Robin Lemmens, Christopher Levi, Caitrin W. McDonough, James Meschia, Chia-Ling Phuah, Arndt Rolfs, Stefan Ropele, Jonathan Rosand, Jaume Roquer, Tatjana Rundek, Ralph L. Sacco, Reinhold Schmidt, Pankaj Sharma, Agnieszka Slowik, Martin Soederholm, Alessandro Sousa, Tara M. Stanne, Daniel Strbian, Turgut Tatlisumak, Vincent Thijs, Achala Vagal, Johan Wasselius, Daniel Woo, Ramin Zand, Patrick McArdle, Bradford B. Worrall, Christina Jern, Arne G. Lindgren, Jane Maguire, Polina Golland, Danilo Bzdok, Ona Wu, Natalia S. Rost
Summary: This study examines the association between high white matter hyperintensity (WMH) burden and stroke severity and functional outcomes. The findings suggest that higher WMH burden may be associated with increased stroke severity and worse functional outcomes.
Article
Cardiac & Cardiovascular Systems
Ray E. Hershberger, Jason Cowan, Elizabeth Jordan, Daniel D. Kinnamon
Summary: Insights into the genetic architecture of dilated cardiomyopathy (DCM) are rapidly evolving, showing a complex and diverse nature. In addition to monogenic structures, oligogenic basis, rare variants, low-frequency, and common genetic variations may contribute to the complexity of DCM, along with gene-environment interactions.
CIRCULATION RESEARCH
(2021)
Article
Biochemistry & Molecular Biology
Kojin Tsuchiya, Yuna Zayasu, Yuichi Nakajima, Nana Arakaki, Go Suzuki, Noriyuki Satoh, Chuya Shinzato
Summary: Understanding the structure and connectivity of coral populations is crucial for marine conservation. This study reveals the complex migration tendencies and population dynamics of coral populations in the Nansei Islands, influenced by heterogeneity in ocean currents and local environments.
Review
Physics, Multidisciplinary
Ming Li, Run-Ran Liu, Linyuan Lu, Mao-Bin Hu, Shuqi Xu, Yi-Cheng Zhang
Summary: In the last two decades, network science has flourished and influenced various fields from the perspective of the heterogeneous interaction patterns of complex systems. The percolation model, as a paradigm for random and semi-random connectivity, plays a key role in the development of network science and its applications. Concepts and analytical methods related to percolation theory are employed to quantify and solve core problems of networks, while insights into percolation theory also facilitate understanding of networked systems.
PHYSICS REPORTS-REVIEW SECTION OF PHYSICS LETTERS
(2021)
Article
Genetics & Heredity
Noraldin Al-Deri, Volkan Okur, Priyanka Ahimaz, Miroslav Milev, Zaheer Valivullah, Jacob Hagen, Yufeng Sheng, Wendy Chung, Michael Sacher, Mythily Ganapathi
Summary: A rare homozygous predicted deleterious missense variant in TRAPPC2L was found to be associated with neurodevelopmental delay, affecting the assembly of TRAPP complexes and membrane trafficking processes.
JOURNAL OF MEDICAL GENETICS
(2021)
Article
Computer Science, Interdisciplinary Applications
Meiling Wang, Wei Shao, Xiaoke Hao, Daoqiang Zhang
Summary: In this research, a method is proposed to estimate the association between genetic markers and quantitative traits by reconstructing the original neuroimaging data using self-expressive networks and fusion methods. Experimental results demonstrate that the method can better estimate the potential associations and identify consistent multi-modality imaging genetic biomarkers.
IEEE TRANSACTIONS ON MEDICAL IMAGING
(2021)
Review
Genetics & Heredity
Angele Tingaud-Sequeira, Aurelien Trimouille, Thomas Sagardoy, Didier Lacombe, Caroline Rooryck-Thambo
Summary: OAVS or Goldenhar syndrome is a complex disorder characterized by abnormal development of first and second branchial arches derivatives during embryogenesis, leading to hemifacial microsomia. The clinical and genetic heterogeneity of this spectrum, along with limited knowledge of causative CNVs and genes, make molecular diagnosis challenging. Improving clinical care and genetic counseling for patients and families involves updating diagnostic criteria, exploring genetic and non-genetic etiologies, and implementing novel diagnostic tools and surgical management strategies.
JOURNAL OF MEDICAL GENETICS
(2022)
Article
Computer Science, Information Systems
Shunjie Yuan, Hefeng Zeng, Ziyang Zuo, Chao Wang
Summary: This study proposes an overlapping community detection method CDMG based on Graph Convolutional Networks (GCN) to maximize the Markov stability of community structure. Extensive experiments demonstrate the superiority of CDMG compared to other established community detection algorithms. The performance of CDMG can be further improved by utilizing the optimal Markov time, which is found using a trichotomy-based method based on the influence of Markov time on CDMG performance.
COMPUTER COMMUNICATIONS
(2023)
Article
Biochemistry & Molecular Biology
Paula E. Adams, Anna B. Crist, Ellen M. Young, John H. Willis, Patrick C. Phillips, Janna L. Fierst
Summary: The outcrossing species C. remanei can recover from inbreeding, but the recovery is limited by the presence of a large number of segregating deleterious variants in natural populations.
MOLECULAR BIOLOGY AND EVOLUTION
(2022)
Article
Behavioral Sciences
Shulamite A. Green, Leanna Hernandez, Susan Y. Bookheimer, Mirella Dapretto
Article
Neuroimaging
Jamie D. Feusner, Andreas Lidstrom, Teena D. Moody, Cecilia Dhejne, Susan Y. Bookheimer, Ivanka Savic
BRAIN IMAGING AND BEHAVIOR
(2017)
Article
Neurosciences
Taylor Kuhn, Daniel Schonfeld, Philip Sayegh, Alyssa Arentoft, Jacob D. Jones, Charles H. Hinkin, Susan Y. Bookheimer, April D. Thames
HUMAN BRAIN MAPPING
(2017)
Article
Behavioral Sciences
Monika Polczynska, Taylor Kuhn, S. Christine You, Patricia Walshaw, Susan Curtiss, Susan Bookheimer
EPILEPSY & BEHAVIOR
(2017)
Article
Neurosciences
Christopher F. Benjamin, Patricia D. Walshaw, Kayleigh Hale, William D. Gaillard, Leslie C. Baxter, Madison M. Berl, Monika Polczynska, Stephanie Noble, Rafeed Alkawadri, Lawrence J. Hirsch, R. Todd Constable, Susan Y. Bookheimer
HUMAN BRAIN MAPPING
(2017)
Article
Clinical Neurology
Martin P. Paulus, Murray B. Stein, Michelle G. Craske, Susan Bookheimer, Charles T. Taylor, Alan N. Simmons, Natasha Sidhu, Katherine S. Young, Boyang Fan
JOURNAL OF AFFECTIVE DISORDERS
(2017)
Article
Multidisciplinary Sciences
Theresa M. Harrison, Donald G. McLaren, Teena D. Moody, Jamie D. Feusner, Susan Y. Bookheimer
JOVE-JOURNAL OF VISUALIZED EXPERIMENTS
(2017)
Article
Neuroimaging
Monika Polczynska, Kevin Japardi, Susan Curtiss, Teena Moody, Christopher Benjamin, Andrew Cho, Celia Vigil, Taylor Kuhn, Michael Jones, Susan Bookheimer
NEUROIMAGE-CLINICAL
(2017)
Article
Neurosciences
Soonjo Hwang, Harma Meffert, Michelle R. VanTieghem, Stuart F. White, Stephen Sinclair, Susan Y. Bookheimer, James Blair
CLINICAL PSYCHOPHARMACOLOGY AND NEUROSCIENCE
(2017)
Article
Multidisciplinary Sciences
Adriana Di Martino, David O'Connor, Bosi Chen, Kaat Alaerts, Jeffrey S. Anderson, Michal Assaf, Joshua H. Balsters, Leslie Baxter, Anita Beggiato, Sylvie Bernaerts, Laura M. E. Blanken, Susan Y. Bookheimer, B. Blair Braden, Lisa Byrge, F. Xavier Castellanos, Mirella Dapretto, Richard Delorme, Damien A. Fair, Inna Fishman, Jacqueline Fitzgerald, Louise Gallagher, R. Joanne Jao Keehn, Daniel P. Kennedy, Janet E. Lainhart, Beatriz Luna, Stewart H. Mostofsky, Ralph-Axel Muller, Mary Beth Nebel, Joel T. Nigg, Kirsten O'Hearn, Marjorie Solomon, Roberto Toro, Chandan J. Vaidya, Nicole Wenderoth, Tonya White, R. Cameron Craddock, Catherine Lord, Bennett Leventhal, Michael P. Milham
Article
Neurosciences
Taylor Kuhn, Tobias Kaufmann, Nhat Trung Doan, Lars T. Westlye, Jacob Jones, Rodolfo A. Nunez, Susan Y. Bookheimer, Elyse J. Singer, Charles H. Hinkin, April D. Thames
HUMAN BRAIN MAPPING
(2018)
Article
Neurosciences
Prabha Siddarth, Berna Rahi, Natacha D. Emerson, Alison C. Burggren, Karen J. Miller, Susan Bookheimer, Helen Lavretsky, Bruce Dobkin, Gary Small, David A. Merrill
JOURNAL OF ALZHEIMERS DISEASE
(2018)
Review
Psychology, Developmental
Duncan B. Clark, Celia B. Fisher, Susan Bookheimer, Sandra A. Brown, John H. Evans, Christian Hopfer, James Hudziak, Ivan Montoya, Margaret Murray, Adolf Pfefferbaum, Deborah Yurgelun-Todd
DEVELOPMENTAL COGNITIVE NEUROSCIENCE
(2018)
Article
Psychology, Developmental
Shulamite A. Green, Leanna M. Hernandez, Hilary C. Bowman, Susan Y. Bookheimer, Mirella Dapretto
DEVELOPMENTAL COGNITIVE NEUROSCIENCE
(2018)
Article
Audiology & Speech-Language Pathology
Monika M. Polczynska, Kevin Japardi, Susan Y. Bookheimer
BRAIN AND LANGUAGE
(2017)