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

Symptom-driven idiopathic disease gene identification.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Nov 2015

Molparia Bhuvan, Pham Phillip H, Torkamani Ali

Abstract excerpt

PURPOSE: Rare genetic variants are the major cause of Mendelian disorders, yet only half of described genetic diseases have been causally linked to a gene. In addition, the total number of rare genetic diseases is projected to be far greater than that of those already described. Whole-genome sequencing of patients with subsequent genetic and functional analysis is a powerful way to describe these gene anomalies....

Read the complete abstract on PubMed

Topics

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

Share to Databases, Genetic
Share to Computational Biology
Share to Computer Simulation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Association Studies

Share to Genetic Diseases, Inborn

Share to Genome, Human

Share to Genome-Wide Association Study

Share to Genomics

Source

Open in PubMed Open full text

Identifiers

PMID: 25590976
DOI: 10.1038/gim.2014.202
PMCID: PMC4861313

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Symptom-driven idiopathic disease gene identification.PMID 25590976Read ↗

Leveraging network analytics to infer patient syndrome and identify causal genes in rare disease cases.Semantic proximity Read ↗

Phenotype-first patient matching with SimPheny identifies diagnostic candidates beyond curated gene associationsSemantic proximity Read ↗

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome.Semantic proximity Read ↗

Phenogenon: Gene to phenotype associations for rare genetic diseases.Semantic proximity Read ↗

A global survey of System Biology-based predictions of gene-rare disease associations to enhance new diagnosesSemantic proximity Read ↗

A global survey of systems biology-based predictions of gene-rare disease associations to enhance new diagnoses.Semantic proximity Read ↗

Simulation of undiagnosed patients with novel genetic conditions.Semantic proximity Read ↗

Simulation of undiagnosed patients with novel genetic conditionsSemantic proximity Read ↗

Phenogenon: Gene to Phenotype Associations for Rare Genetic DiseasesSemantic proximity Read ↗

Matching whole genomes to rare genetic disorders: Identification of potential causative variants using phenotype-weighted knowledge in the CAGI SickKids5 clinical genomes challengeSemantic proximity Read ↗

Divine: Prioritizing Genes for Rare Mendelian Disease in Whole Exome Sequencing DataSemantic proximity Read ↗

A gene-to-patient approach uplifts novel disease gene discovery and identifies 18 putative novel disease genes.Semantic proximity Read ↗

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