Article
Plant Sciences
Wilku B. Meyer, Willem H. P. Boshoff, Adre Minnaar-Ontong, Anthony J. Young, Gary Kong, Susan Thompson, Zacharias A. Pretorius, Botma Visser
Summary: The study reveals the high diversity of Puccinia helianthi in South Africa, with the identification of three new races and the possibility of recent exotic introductions. There is a complex genetic lineage of the races, with no clear correlation between phenotype and genotype.
Article
Microbiology
Bradford Becken, Lauren Davey, Dustin R. Middleton, Katherine D. Mueller, Agastya Sharma, Zachary C. Holmes, Eric Dallow, Brenna Remick, Gregory M. Barton, Lawrence A. David, Jessica R. McCann, Sarah C. Armstrong, Per Malkus, Raphael H. Valdivia
Summary: This study highlights the importance of Akkermansia muciniphila phylogroup diversity in influencing host health outcomes, with different phylogroups potentially exhibiting unique physiological traits and the possibility of phylogroup switching among individuals.
Article
Dentistry, Oral Surgery & Medicine
Narin Intarak, Thunyaporn Budsamongkol, Thanakorn Theerapanon, Theerapat Chanamuangkon, Anucharte Srijunbarl, Lawan Boonprakong, Thantrira Porntaveetus, Vorasuk Shotelersuk
Summary: This study identified two novel COL1A2 variants in a family affected with osteogenesis imperfecta type IV and dentinogenesis imperfecta. The mutations led to inferior mechanical properties and altered ultrastructure of the teeth, potentially contributing to fragility and susceptibility to infection. This expands the phenotypic and genotypic spectrums of COL1A2 mutations.
Article
Clinical Neurology
Yanjun Guo, Iyas Daghlas, Padhraig Gormley, Franco Giulianini, Paul M. Ridker, Samia Mora, Tobias Kurth, Pamela Rist, Daniel Chasman
Summary: The study found significant associations between certain lipoprotein subfractions, especially triglyceride-rich lipoproteins (TRLPs), and migraine in populations of European ancestry. Genetic correlations indicated that the relationships were likely due to shared genetic components rather than causality.
Article
Psychology, Biological
Anders M. Fjell, Oystein Sorensen, Yunpeng Wang, Inge K. Amlien, William F. C. Baare, David Bartres-Faz, Lars Bertram, Carl-Johan Boraxbekk, Andreas M. Brandmaier, Ilja Demuth, Christian A. Drevon, Klaus P. Ebmeier, Paolo Ghisletta, Rogier Kievit, Simone Kuehn, Kathrine Skak Madsen, Athanasia M. Mowinckel, Lars Nyberg, Claire E. Sexton, Cristina Sole-Padulles, Didac Vidal-Pineiro, Gerd Wagner, Leiv Otto Watne, Kristine B. Walhovd
Summary: Short sleep duration is not directly associated with brain health, and normal brains promote adequate sleep.
NATURE HUMAN BEHAVIOUR
(2023)
Article
Genetics & Heredity
Hong Sun, Xiaoping Lan, Liangxiao Ma, Junmei Zhou
Summary: The study revealed significant differences between modifier variants/genes and pathogenic variants/genes in various aspects, including genomic loci characteristics, probability of causing diseases, and importance in network communication. Co-expression analysis was shown to be an effective method for predicting functional associations between modifier genes and potential target genes.
Article
Engineering, Electrical & Electronic
Yao Liu, Junyi Zhang, Shuo Liu, Qiaoling Wang, Wangchen Dai, Ray Chak Chung Cheung
Summary: The paper introduces a new in-network aggregation framework to address the inefficiency in bandwidth utilization for distributed machine learning tasks, improving communication efficiency and achieving significant speedup in image training tasks.
IEEE TRANSACTIONS ON CIRCUITS AND SYSTEMS I-REGULAR PAPERS
(2021)
Article
Multidisciplinary Sciences
Jonathan P. A. Gardner, Catarina N. S. Silva, Craig R. Norrie, Brendon J. Dunphy
Summary: The study combines genotypic and phenotypic data to investigate the source populations of New Zealand green-lipped mussel spat. Analysis reveals high levels of variability in shell geochemistry signal, but fails to conclusively identify the source sites of the spat.
SCIENTIFIC REPORTS
(2021)
Article
Thermodynamics
Costanza Saletti, Nathan Zimmerman, Mirko Morini, Konstantinos Kyprianidis, Agostino Gambarotta
Summary: District heating networks efficiently distribute thermal energy, reducing carbon emissions and improving air quality. A novel procedure has been proposed to develop a fast scale-free model for system optimization and control, based on limited data available at main substations.
APPLIED THERMAL ENGINEERING
(2022)
Review
Genetics & Heredity
Daniel Tabet, Victoria Parikh, Prashant Mali, Frederick P. Roth, Melina Claussnitzer
Summary: Scalable sequence-function studies have enabled systematic analysis of genetic variants, improving clinical interpretation and providing insights into the effects of genetic variants.
ANNUAL REVIEW OF GENETICS
(2022)
Review
Immunology
Kizil A. Yusoof, Juan Ignacio Garcia, Alyssa Schami, Andreu Garcia-Vilanova, Holden V. Kelley, Shu-Hua Wang, Adrian Rendon, Blanca I. Restrepo, Marcel Yotebieng, Jordi B. Torrelles
Summary: Tuberculosis (TB) remains a significant disease, especially in low and middle-income countries. The diagnosis and treatment of drug-resistant TB pose challenges and require additional resources. Phenotypic and genotypic diagnosis of TB through a series of tests can determine the presence of the disease and the susceptibility or resistance of the bacteria strain to drugs.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Genetics & Heredity
Georg F. Vogel, Yael Mozer-Glassberg, Yuval E. Landau, Lea D. Schlieben, Holger Prokisch, Rene G. Feichtinger, Johannes A. Mayr, Heiko Brennenstuhl, Julian Schroeter, Agnes Pechlaner, Fowzan S. Alkuraya, Joshua J. Baker, Giulia Barcia, Ivo Baric, Nancy Braverman, Birute Burnyte, John Christodoulou, Elzbieta Ciara, David Coman, Anibh M. Das, Niklas Darin, Adela Della Marina, Felix Distelmaier, Erik A. Eklund, Melike Ersoy, Weiyan Fang, Pauline Gaignard, Rebecca D. Ganetzky, Emmanuel Gonzales, Caoimhe Howard, Joanne Hughes, Vassiliki Konstantopoulou, Melis Kose, Marina Kerr, Aneal Khan, Dominic Lenz, Robert McFarland, Merav Gil Margolis, Kevin Morrison, Thomas Mueler, Kei Murayama, Emanuele Nicastro, Alessandra Pennisi, Heidi Peters, Dorota Piekutowska-Abramczuk, Agnes Roetig, Rene Santer, Fernando Scaglia, Manuel Sehiff, Mohmmad Shagrani, Mark Sharrard, Claudia Soler-Alfonso, Christian Staufner, Imogen Storey, Michael Stormon, Robert W. Taylor, David R. Thorburn, Elisa Leao Teles, Jian-She Wang, Daniel Weghuber, Saskia Wortmann
Summary: The purpose of this study was to define the genotypic and phenotypic spectrum of reversible acute liver failure (ALF) of infancy caused by biallelic pathogenic TRMU variants and investigate the role of cysteine supplementation in its treatment. A retrospective collection of patient data was analyzed, and it was found that TRMU-associated ALF is usually a transient and reversible disease, with improved survival observed with cysteine supplementation.
GENETICS IN MEDICINE
(2023)
Review
Clinical Neurology
Jean-Marc Burgunder
Summary: Neurological diseases associated with specific pathogenic gene variants can show considerable phenotypic variation. This Review explores the mechanisms that underlie this phenomenon, including environmental, genetic, and epigenetic factors that influence the expressivity and penetrance of pathogenic variants.
NATURE REVIEWS NEUROLOGY
(2023)
Review
Biochemistry & Molecular Biology
Federica Fogacci, Valentina Di Micoli, Ashot Avagimyan, Marina Giovannini, Egidio Imbalzano, Arrigo F. G. Cicero
Summary: This review aims to discuss the best strategy for utilizing molecular biology techniques to examine the genetic role of Lp(a) and its significance in clinical research and practice. The diversity in size of apo(a) is primarily caused by copy number variations in the KIV2 domains.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Mathematical & Computational Biology
Lacey-Anne Sanderson, Carolyn T. Caron, Reynold L. Tan, Kirstin E. Bett
Summary: Researchers are looking for cost-effective solutions to manage and analyze large-scale genotypic and phenotypic data, where open-source software and Tripal can fulfill this need. Tripal utilizes the GMOD Chado database schema in PostgreSQL for flexible storage and follows FAIR principles for data provision.
DATABASE-THE JOURNAL OF BIOLOGICAL DATABASES AND CURATION
(2021)
Article
Oncology
Danielle B. McKenna, Jeroen Van den Akker, Alicia Y. Zhou, Lauren Ryan, Annette Leon, Robert O'Connor, Payal D. Shah, Anil K. Rustgi, Bryson W. Katona
Article
Oncology
Jennifer L. Caswell-Jin, Anjali D. Zimmer, Will Stedden, Kerry E. Kingham, Alicia Y. Zhou, Allison W. Kurian
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE
(2019)
Review
Developmental Biology
Cynthia L. Neben, Megan Lo, Natalia Jura, Ophir D. Klein
DEVELOPMENTAL BIOLOGY
(2019)
Article
Oncology
Daniel Hyuck-Min Kwon, Hala T. Borno, Heather H. Cheng, Alicia Yiran Zhou, Eric Jay Small
UROLOGIC ONCOLOGY-SEMINARS AND ORIGINAL INVESTIGATIONS
(2020)
Article
Oncology
Babatunde Adedokun, Yonglan Zheng, Paul Ndom, Antony Gakwaya, Timothy Makumbi, Alicia Y. Zhou, Toshio F. Yoshimatsu, Alex Rodriguez, Ravi K. Madduri, Ian T. Foster, Aminah Sallam, Olufunmilayo I. Olopade, Dezheng Huo
CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION
(2020)
Article
Pharmacology & Pharmacy
Samuel S. Gidding, Amanda Sheldon, Cynthia L. Neben, Hannah E. Williams, Sherman Law, Alicia Y. Zhou, Katherine Wilemon, Catherine D. Ahmed, Iris Kindt
JOURNAL OF CLINICAL LIPIDOLOGY
(2020)
Editorial Material
Biochemistry & Molecular Biology
Alicia Y. Zhou
Article
Genetics & Heredity
Carmen Lai, Anjali D. Zimmer, Robert O'Connor, Serra Kim, Ray Chan, Jeroen van den Akker, Alicia Y. Zhou, Scott Topper, Gilad Mishne
Article
Oncology
Carol Cremin, Michael Kuan-Ching Lee, Quan Hong, Carolyn Hoeschen, Anna Mackenzie, Katherine Dixon, Mary McCullum, Jennifer Nuk, Steve Kalloger, Joanna Karasinska, Charles Scudamore, Peter T. W. Kim, Fergal Donnellan, Eric C. S. Lam, Howard J. Lim, Cynthia L. Neben, Will Stedden, Alicia Y. Zhou, David F. Schaeffer, Sophie Sun, Daniel J. Renouf, Kasmintan A. Schrader
Article
Multidisciplinary Sciences
Akl C. Fahed, Minxian Wang, Julian R. Homburger, Aniruddh P. Patel, Alexander G. Bick, Cynthia L. Neben, Carmen Lai, Deanna Brockman, Anthony Philippakis, Patrick T. Ellinor, Christopher A. Cassa, Matthew Lebo, Kenney Ng, Eric S. Lander, Alicia Y. Zhou, Sekar Kathiresan, Amit V. Khera
NATURE COMMUNICATIONS
(2020)
Article
Pathology
Jeroen van den Akker, Lawrence Hon, Anjana Ondov, Ziga Mahkovec, Robert O'Connor, Raymond C. Chan, Justin Lock, Anjali D. Zimmer, Asha Rostamianfar, Jeremy Ginsberg, Annette Leon, Scott Topper
Summary: Large copy number variants (CNVs) are relevant to hereditary disorders, with population sequencing efforts documenting common structural variants (SVs). Rare germline SVs' clinical contribution is limited. Targeted next-generation sequencing identified 828 unique SVs across 50 genes associated with hereditary cancer and cardiovascular disorders, indicating the importance of SVs in hereditary disorders and the necessity for a variety of variant-calling algorithms for robust SV detection.
JOURNAL OF MOLECULAR DIAGNOSTICS
(2021)
Article
Multidisciplinary Sciences
Ryan Seamus McGee, Julian R. Homburger, Hannah E. Williams, Carl T. Bergstrom, Alicia Y. Zhou
Summary: Research indicates that measures such as student cohorting, proactive testing of teachers and staff, and weekly testing of students can effectively reduce the risk of COVID-19 transmission in schools. Controlling outbreaks in secondary schools, where students are more susceptible to infection and have different social interaction patterns, poses greater challenges. Additionally, other mitigation strategies like mask wearing, social distancing, and improved ventilation remain crucial components of any reopening plan.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)