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

Databases of genomic variation and phenotypes: existing resources and future needs.

Human molecular genetics - 15 Oct 2013

Johnston Jennifer J, Biesecker Leslie G

Abstract excerpt

Massively parallel sequencing (MPS) has become an important tool for identifying medically significant variants in both research and the clinic. Accurate variation and genotype-phenotype databases are critical in our ability to make sense of the vast amount of information that MPS generates. The purpose of this review is to summarize the state of the art of variation and genotype-phenotype databases, how they can...

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 Genetic Variation
Share to Genome, Human

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genomics

Share to Genotype

Share to Molecular Sequence Annotation

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 23962721
DOI: 10.1093/hmg/ddt384
PMCID: PMC3782073

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Databases of genomic variation and phenotypes: existing resources and future needs.PMID 23962721Read ↗

Human genotype-phenotype databases: aims, challenges and opportunities.Semantic proximity Read ↗

Changing genetic paradigms: creating next-generation genetic databases as tools to understand the emerging complexities of genotype/phenotype relationships.Semantic proximity Read ↗

Detecting Causal Variants in Mendelian Disorders Using Whole-Genome Sequencing.Semantic proximity Read ↗

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

Challenges in the diagnosis and discovery of rare genetic disorders using contemporary sequencing technologiesSemantic proximity Read ↗

Identification of Pathogenic Structural Variants in Rare Disease Patients through Genome SequencingSemantic proximity Read ↗

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

Exome sequencing analysis: a guide to disease variant detection.Semantic proximity Read ↗

Integrating large-scale genotype and phenotype data.Semantic proximity Read ↗

Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data.Semantic proximity Read ↗

Analysis and annotation of whole-genome or whole-exome sequencing-derived variants for clinical diagnosis.Semantic proximity Read ↗

Insights into genetics, human biology and disease gleaned from family based genomic studies.Semantic proximity Read ↗

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