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

Systematic identification of genetic systems associated with phenotypes in patients with rare genomic copy number variations.

Human genetics - 1 Mar 2021

Jabato F M, Seoane Pedro, Perkins James R, Rojano Elena, García Moreno Adrián, Chagoyen M, Pazos Florencio, Ranea Juan A G

Abstract excerpt

Copy number variation (CNV) related disorders tend to show complex phenotypic profiles that do not match known diseases. This makes it difficult to ascertain their underlying molecular basis. A potential solution is to compare the affected genomic regions for multiple patients that share a pathological phenotype, looking for commonalities. Here, we present a novel approach to associate phenotypes with functional...

Read the complete abstract on PubMed

Topics

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

Share to Cohort Studies
Share to Databases, Genetic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Copy Number Variations

Share to Genetic Predisposition to Disease

Share to Genotype

Share to Phenotype

Source

Identifiers

PMID: 32778951
DOI: 10.1007/s00439-020-02214-7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Systematic identification of genetic systems associated with phenotypes in patients with rare genomic copy number variations.PMID 32778951Read ↗

Phenotype-loci associations in networks of patients with rare disorders: application to assist in the diagnosis of novel clinical cases.Semantic proximity Read ↗

Systematic identification of phenotypically enriched loci using a patient network of genomic disorders.Semantic proximity Read ↗

Phenotype-genotype comorbidity analysis of patients with rare disorders provides insight into their pathological and molecular bases.Semantic proximity Read ↗

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

Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnosesSemantic proximity Read ↗

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

The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases.Semantic proximity Read ↗

DECIPHER: Supporting the interpretation and sharing of rare disease phenotype-linked variant data to advance diagnosis and research.Semantic proximity Read ↗

Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders.Semantic proximity Read ↗

Gene networks underlying convergent and pleiotropic phenotypes in a large and systematically-phenotyped cohort with heterogeneous developmental disorders.Semantic proximity Read ↗

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

Phenotypic signatures in clinical data enable systematic identification of patients for genetic testingSemantic proximity Read ↗

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