Results 141 to 150 of about 547,727 (260)

SIMON: Open-Source Knowledge Discovery Platform. [PDF]

Patterns (N Y), 2021
Tomic A, Tomic I, Waldron L, Geistlinger L, Kuhn M, Spreng RL, Dahora LC, Seaton KE, Tomaras G, Hill J, Duggal NA, Pollock RD, Lazarus NR, Harridge SDR, Lord JM, Khatri P, Pollard AJ, Davis MM.   +17 more
europepmc   +1 more source

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source

A hybrid extraction model for semantic knowledge discovery of water conservancy big data. [PDF]

PeerJ Comput Sci
Feng Y, Zhang F, Zhang Y, Dong J, Wang P.   +4 more
europepmc   +1 more source

Knowledge discovery in genetics of diabetes in Iran, a roadmap for future researches. [PDF]

J Diabetes Metab Disord, 2021
Fana SE, Esmaeili F, Esmaeili S, Bandaryan F, Esfahani EN, Amoli MM, Razi F.   +6 more
europepmc   +1 more source

Baseline Regional Cholinergic Denervation Predicts Cognitive Trajectories in Moderate Parkinson Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cognitive decline is a disabling and variable feature of Parkinson disease (PD). While cholinergic system degeneration is linked to cognitive impairments in PD, most prior research reported cross‐sectional associations. We aimed to fill this gap by investigating whether baseline regional cerebral vesicular acetylcholine transporter ...
Taylor Brown, Giulia Carli, Prabesh Kanel, Stiven Roytman, Jaimie Barr, Nicolaas I. Bohnen, Roger L. Albin   +6 more
wiley   +1 more source

Knowledge Discovery in Databases of Proteomics by Systems Modeling in Translational Research on Pancreatic Cancer. [PDF]

Proteomes
Resell M, Graarud EP, Rabben HL, Sharma A, Hagen L, Hoang L, Skogaker NT, Aarvik A, Svensson MK, Amrutkar M, Verbeke CS, Batra SK, Qvigstad G, Wang TC, Rustgi A, Chen D, Zhao CM.   +16 more
europepmc   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Transforming Patient Feedback Into Actionable Insights Through Natural Language Processing: Knowledge Discovery and Action Research Study. [PDF]

JMIR Form Res
Shankar R, Yip A.
europepmc   +1 more source

Evidence of Iron Accumulation in Cerebral Adrenoleukodystrophy: A Potential Novel Disease Mechanism

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT In this first application of Quantitative Susceptibility Mapping Source Separation to cerebral adrenoleukodystrophy, we uncovered alterations in iron and myelin within lesions and normal appearing white matter. As validation, we demonstrate abnormal iron accumulation in those same compartments within primary brain tissue.
Christina L. Nemeth, Mert Sisman, Jinwei Zhang, Hyeong‐geol Shin, Xu Li, Bela Turk, Ali Fatemi, Thanh Nguyen, Eric Mallack   +8 more
wiley   +1 more source

LitSense 2.0: AI-powered biomedical information retrieval with sentence and passage level knowledge discovery. [PDF]

Nucleic Acids Res
Yeganova L, Kim W, Tian S, Comeau DC, Wilbur WJ, Lu Z.   +5 more
europepmc   +1 more source