Article

GenPK Suite: An Integrated Digital Platform for Phenotypic Data Collection, 3D Facial Imaging, and Research Workflow Management in Rare Diseases

2025-11-22

Abstract excerpt

Accurate and secure collection of genetic samples and associated phenotypic data is essential for advancing rare disease research, yet existing workflows often remain fragmented across paper records, electronic questionnaires, and laboratory information systems. To address these limitations, we developed the GenPK Suite, an offline-capable digital platform that integrates family-wise recruitment, disorder-specific...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 4e4f8b8c-1c39-5261-8e7f-c2608caf45ce
DOI: 10.1101/2025.11.18.25340411

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

GenPK Suite: An Integrated Digital Platform for Phenotypic Data Collection, 3D Facial Imaging, and Research Workflow Management in Rare DiseasesDOI 10.1101/2025.11.18.25340411Read

Workflow analysis and evaluation of a next-generation phenotyping tool: A qualitative study of Face2Gene.Semantic proximity Read

Designing an integrated data model for prospective genotype-phenotype in inborn errors of immunity research.Semantic proximity Read

Collection of clinical and epidemiological data for genetic linkage and association studies.Semantic proximity Read

Implementing Electronic Informed Consent in Rare Disease GenomicsSemantic proximity Read

The Epilepsy Phenome/Genome Project (EPGP) informatics platform.Semantic proximity Read

A Collection of 2,280 Public Domain (CC0) Curated Human GenotypesSemantic proximity Read

Developing Clinical Phenotype Data Collection Standards for Research in Africa.Semantic proximity Read

Some principles and practices of genetic biobanking studies.Semantic proximity Read

A cloud-based solution for managing next-generation sequencing data to comprehend forensic population statistics.Semantic proximity Read

A New Cloud‐Native Tool for Pharmacogenetic AnalysisSemantic proximity Read

Ethical considerations for Forensic Genetic Frequency databases: First Report conception and developmentSemantic proximity Read

Locus-specific databases: from ethical principles to practice.Semantic proximity Read