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Article

DNA variant databases: current state and future directions.

Methods in molecular biology (Clifton, N.J.) - 1 Jan 2014

Plazzer John-Paul, Macrae Finlay

Abstract excerpt

In this chapter we aim to provide an overview of DNA variant databases, commonly known as Locus-Specific Databases (LSDBs), or Gene-Disease Specific Databases (GDSDBs), but the term variant database will be used for simplicity. We restrict this overview to germ-line variants, particularly as related to Mendelian diseases, which are diseases caused by a variant in a single gene. Common difficulties associated with...

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PMID: 24870141
DOI: 10.1007/978-1-4939-0847-9_15

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

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