Guo‐Qiang Zhang

Enterprise Health Twins - Conceptual Framework, Design Principles,and Longitudinal Evaluation: Preliminary Results from EpiToMe

The paper introduces the Enterprise Health Twin framework to improve clinical workflows and data use in epilepsy care, achieving increased productivity and structured data capture.

A layered standards framework for integrating single-cell and spatial omics data into brain cell atlases

This paper introduces a standards framework for integrating single-cell and spatial omics data into brain cell atlases, enabling interoperable and reusable knowledge-ready resources.

A Community Standard Multispecies Cell Atlas of the Basal Ganglia

The paper presents a cross-species, multimodal atlas of the basal ganglia using single-cell transcriptomics and integrates epigenomic and spatial genomic data to enable cross-species comparisons.

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification

The paper introduces Gene Portals, a framework that integrates clinical, functional, and structural data for rare disease variant classification, demonstrating its utility across five gene-specific portals.

Age-aware genotype-phenotype architecture across 87 genetic neurodevelopmental disorders

This study creates an age-aware genotype-phenotype atlas for 87 neurodevelopmental disorders using data from the Simons Searchlight cohort, identifying gene-specific risk profiles and age-dependent penetrance patterns.

Harnessing Mondo and the ILAE Classification for Curation and Analysis of 71,942 epilepsy patient variants

The paper curates and analyzes 71,942 epilepsy-related variants from ClinVar using Mondo and ILAE classifications to identify age-specific genetic contributors and shared pathways.

The BRAIN Initiative Cell Census Data Ecosystem: A User's Guide

The paper provides a guide to the BRAIN Initiative Cell Census Network (BICCN) data ecosystem, its tools, and resources for analyzing brain cell types across species.