Locus-specific database domain and data content analysis: evolution and content maturation toward clinical use.
about
FINDbase: a worldwide database for genetic variation allele frequencies updatedMicroattribution and nanopublication as means to incentivize the placement of human genome variation data into the public domainVarioML framework for comprehensive variation data representation and exchangeBioinformatics for personal genome interpretationUpdates of the HbVar database of human hemoglobin variants and thalassemia mutations.Expanded national database collection and data coverage in the FINDbase worldwide database for clinically relevant genomic variation allele frequencies.VariBench: a benchmark database for variations.Variation Interpretation Predictors: Principles, Types, Performance, and Choice.Comparison of locus-specific databases for BRCA1 and BRCA2 variants reveals disparity in variant classification within and among databasesAnnotating DNA variants is the next major goal for human genetics.Emerging landscape of genomics in the Electronic Health Record for personalized medicine.The curation of genetic variants: difficulties and possible solutions.The Human Variome Project: ensuring the quality of DNA variant databases in inherited renal disease.DRUMS: a human disease related unique gene mutation search engine.Conserved and quickly evolving immunome genes have different evolutionary paths.Guidelines for establishing locus specific databases.LSDBs and How They Have Evolved.Databases for neurogenetics: introduction, overview, and challenges.An informatics project and online "Knowledge Centre" supporting modern genotype-to-phenotype research.WAVe: web analysis of the variome.Clinical Variant Classification: A Comparison of Public Databases and a Commercial Testing Laboratory.Curating gene variant databases (LSDBs): toward a universal standardPopulation-specific documentation of pharmacogenomic markers and their allelic frequencies in FINDbase
P2860
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P2860
Locus-specific database domain and data content analysis: evolution and content maturation toward clinical use.
description
2010 nî lūn-bûn
@nan
2010 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Locus-specific database domain ...... aturation toward clinical use.
@ast
Locus-specific database domain ...... aturation toward clinical use.
@en
type
label
Locus-specific database domain ...... aturation toward clinical use.
@ast
Locus-specific database domain ...... aturation toward clinical use.
@en
prefLabel
Locus-specific database domain ...... aturation toward clinical use.
@ast
Locus-specific database domain ...... aturation toward clinical use.
@en
P2093
P356
P1433
P1476
Locus-specific database domain ...... aturation toward clinical use.
@en
P2093
Anthony J Brookes
Christina Mitropoulou
George P Patrinos
Konstantinos Mitropoulos
P2860
P304
P356
10.1002/HUMU.21332
P50
P577
2010-10-01T00:00:00Z