Integrating Long‐Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia
Abstract Background Although many individuals with dystonia present with features indicative of single‐gene etiologies, obtaining definitive genetic diagnoses can be challenging. Objective We assessed the value of nanopore‐based long‐read sequencing (LRS) in achieving molecular clarification of dystonic syndromes.
Ugo Sorrentino +30 more
wiley +1 more source
Hypertrophic Cardiomyopathy Phenocopies: Classification, Key Features, and Differential Diagnosis. [PDF]
Teresi L +17 more
europepmc +1 more source
High‐Resolution Diffusion‐Weighted Imaging With Self‐Gated Self‐Supervised Unrolled Reconstruction
ABSTRACT Purpose High‐resolution diffusion‐weighted imaging (DWI) is clinically demanding. The purpose of this work is to develop an efficient self‐supervised algorithm unrolling technique for submillimeter‐resolution DWI. Methods We developed submillimeter DWI acquisition utilizing multi‐band multi‐shot EPI with diffusion shift encoding.
Zhengguo Tan +4 more
wiley +1 more source
Multigenerational temperature effects on paternal epigenetic inheritance in European sea bass. [PDF]
Sánchez-Baizán N +3 more
europepmc +1 more source
Perfect Matching Under Precedence Constraints
ABSTRACT In this article, we motivate and define variants of perfect matching under precedence constraints where a perfect matching is built incrementally and precedence constraints ensure that an edge may only be added to the matching if the edge's predecessor vertices have already been covered.
Christina Büsing, Corinna Mathwieser
wiley +1 more source
Contributions of inherited mtDNA to longevity: evidence from extended pedigrees with 176 million kinship pairs. [PDF]
Burt SA +6 more
europepmc +1 more source
Optimal control combines state and adjoint equations, which yield the state (x$$ x $$) and adjoint (lambda) variables as a function of the control variables (u$$ u $$). This structure allows us to design strategies for iteratively updating the control variable, based on conjugate gradient (CG) or GMRES algorithms.
N. Armengou‐Riera +4 more
wiley +1 more source
Optimization of physical energy and velocity allocation for cyclists in road cycling individual time trial using genetic algorithm. [PDF]
Li X, Zou B, Wang X, Liu C.
europepmc +1 more source
Systematic Parameter Selection for Short Fiber Polymer Composite Direct Fiber Simulation
Interactions of individually simulated fibers are systematically calibrated such that their orientation history agrees with the results from analytical orientation models. ABSTRACT The orientation of fibers in short discontinuous fiber reinforced polymer composites is a critical factor in determining final mechanical and thermal properties.
Jason B. Pierce, Douglas E. Smith
wiley +1 more source
Genetics in a Danish Common Variable Immunodeficiency Cohort. [PDF]
Drabe CH +10 more
europepmc +1 more source

