Results 211 to 220 of about 6,737,195 (258)

Optimized Cas9‐Enriched Nanopore Sequencing and Analysis Workflow for Clinical Diagnosis of Repeat Expansion Disorders

open access: yesAdvanced Science, EarlyView.
An optimized Cas9‐enriched nanopore sequencing workflow, combined with STRiker, enables simultaneous analysis of disease‐associated STR loci from patient blood. The nCATS–STRiker workflow detects repeat expansions, de novo repeat motifs, interruption patterns, and methylation in a single assay, improving the genetic diagnosis of previously undiagnosed ...
Seungbok Lee   +11 more
wiley   +1 more source

Beyond symbolic algebra with quantum picturalism. [PDF]

open access: yesFront Cognit
Dündar-Coecke S   +4 more
europepmc   +1 more source

DyProL: Dynamic Ensemble Representation Learning for Protein–Nucleic Acid Binding Site Prediction

open access: yesAdvanced Science, EarlyView.
Protein function is represented as a dynamic conformational ensemble rather than a single static structure. A multi‐conformation geometric attention framework aligns, clusters, and learns representative states to capture residue‐ and ensemble‐level signals. Integrating structural dynamics improves interpretable protein‐NA binding prediction and reveals
Pengpai Li   +3 more
wiley   +1 more source

MethyAnno: An Interpretable Automated Annotation Method Leveraging Multi‐Scale Information and Metric Learning Framework for scDNAm Data

open access: yesAdvanced Science, EarlyView.
MethyAnno enables robust and interpretable annotation of single‐cell DNA methylation data by integrating multi‐scale epigenetic information, bidirectional cross‐attention, and prototype‐based metric learning. The framework resolves rare and novel cell types across datasets while revealing cell‐type‐specific epigenetic signatures associated with disease
Yuhang Jia   +4 more
wiley   +1 more source

Generative Artificial Intelligence for Qualitative Methods in Health Research: Rapid Review. [PDF]

open access: yesJ Med Internet Res
Gierbolini-Rivera RD   +6 more
europepmc   +1 more source

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