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

LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach.

Human mutation - 1 Aug 2005

Fokkema Ivo F A C, den Dunnen Johan T, Taschner Peter E M

Abstract excerpt

The completion of the human genome project has initiated, as well as provided the basis for, the collection and study of all sequence variation between individuals. Direct access to up-to-date information on sequence variation is currently provided most efficiently through web-based, gene-centered, locus-specific databases (LSDBs). We have developed the Leiden Open (source) Variation Database (LOVD) software...

Read the complete abstract on PubMed

Topics

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

Share to Computational Biology
Share to Databases, Genetic
Share to Databases, Nucleic Acid

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genome, Human

Share to Internet

Share to Muscular Dystrophies

Share to Programming Languages

Share to Software

Source

Identifiers

PMID: 15977173
DOI: 10.1002/humu.20201

Genes

DMD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach.PMID 15977173Read ↗

LOVD v.2.0: the next generation in gene variant databases.Semantic proximity Read ↗

Toward a mtDNA locus-specific mutation database using the LOVD platform.Semantic proximity Read ↗

Development of NIPBL locus-specific database using LOVD: from novel mutations to further genotype-phenotype correlations in Cornelia de Lange Syndrome.Semantic proximity Read ↗

Curating gene variant databases (LSDBs): toward a universal standard.Semantic proximity Read ↗

The LOVD3 platform: efficient genome-wide sharing of genetic variants.Semantic proximity Read ↗

LOVD–DASH: A comprehensive LOVD database coupled with diagnosis and an at‐risk assessment system for hemoglobinopathiesSemantic proximity Read ↗

UMD (Universal Mutation Database): 2005 update.Semantic proximity Read ↗

Novel LOVD databases for hereditary breast cancer and colorectal cancer genes in the Chinese population.Semantic proximity Read ↗

MitoLSDB: a comprehensive resource to study genotype to phenotype correlations in human mitochondrial DNA variations.Semantic proximity Read ↗

UMD (Universal mutation database): a generic software to build and analyze locus-specific databases.Semantic proximity Read ↗

[Genetic mutation databases: stakes and perspectives for orphan genetic diseases].Semantic proximity Read ↗

DRUMS: a human disease related unique gene mutation search engine.Semantic proximity Read ↗

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