Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Precision Medicine for Continuing Phenotype Expansion of Human Genetic Diseases.

BioMed research international - 1 Jan 2015

Yu Hui, Zhang Victor Wei

Abstract excerpt

Determining the exact genetic causes for a patient and providing definite molecular diagnoses are core elements of precision medicine. Individualized patient care is often limited by our current knowledge of disease etiologies and commonly used phenotypic-based diagnostic approach. The broad and incompletely understood phenotypic spectrum of a disease and various underlying genetic heterogeneity also present...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Genetic Diseases, Inborn
Share to Genome, Human
Share to Genomics

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Phenotype

Share to Precision Medicine

Source

Open in PubMed Open full text

Identifiers

PMID: 26137492
DOI: 10.1155/2015/745043
PMCID: PMC4475565

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Precision Medicine for Continuing Phenotype Expansion of Human Genetic Diseases.PMID 26137492Read ↗

Precision medicine in rare diseases: What is next?Semantic proximity Read ↗

Whole-genome sequencing as a first-tier diagnostic framework for rare genetic diseasesSemantic proximity Read ↗

The Power of Clinical Diagnosis for Deciphering Complex Genetic Mechanisms in Rare Diseases.Semantic proximity Read ↗

Molecular diagnosis of genetic diseases.Semantic proximity Read ↗

The shifting model in clinical diagnostics: how next-generation sequencing and families are altering the way rare diseases are discovered, studied, and treated.Semantic proximity Read ↗

Rare-disease genetics in the era of next-generation sequencing: discovery to translation.Semantic proximity Read ↗

Clinical applications of molecular genetic discoveries.Semantic proximity Read ↗

A brief history of human disease genetics.Semantic proximity Read ↗

Genetics, Genomics, and Precision Medicine.Semantic proximity Read ↗

Identifying novel disease genes and revealing the pathomechanism of monogenic diseases.Semantic proximity Read ↗

Precision Medicine and Rare Genetic Variants.Semantic proximity Read ↗

Towards precision medicine.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.