Results 31 to 40 of about 5,302,158 (304)

OryGenesDB: a database for rice reverse genetics [PDF]

open access: yesNucleic Acids Research, 2006
Insertional mutant databases containing Flanking Sequence Tags (FSTs) are becoming key resources for plant functional genomics. We have developed OryGenesDB (http://orygenesdb.cirad.fr/), a database dedicated to rice reverse genetics. Insertion mutants of rice genes are catalogued by Flanking Sequence Tag (FST) information that can be readily accessed ...
Droc, Gaëtan   +10 more
openaire   +7 more sources

Integrating databases for research on health and performance in small animals and horses in the Nordic countries [PDF]

open access: yes, 2011
Nordic examples of the use of secondary small animal and equine databases include studies based on data from tumour registries, breeding registries, young horse quality contest results, competition data, insurance databases, clinic data, prescription ...
Bonnett, Brenda   +7 more
core   +1 more source

Arginase 1 Deficiency: using genetic databases as a tool to establish global prevalence

open access: yesOrphanet Journal of Rare Diseases, 2022
Background/objective Arginase 1 Deficiency (ARG1-D) is a rare inherited metabolic disease with progressive, devastating neurological manifestations with early mortality and high unmet need.
C. Catsburg   +3 more
doaj   +1 more source

A Novel Automatic Relational Database Normalization Method

open access: yesActa Informatica Pragensia, 2022
The increase in data diversity and the fact that database design is a difficult process make it practically impossible to design a unique database schema for all datasets encountered.
Emre Akadal, Mehmet Hakan Satman
doaj   +1 more source

CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants

open access: yesHuman Mutation, 2018
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders of adrenal steroidogenesis. Disorders in steroid 21‐hydroxylation account for over 95% of patients with CAH. Clinically, the 21‐hydroxylase deficiency has been classified in
L. Simonetti   +9 more
semanticscholar   +1 more source

Development of Korean Rare Disease Knowledge Base [PDF]

open access: yesHealthcare Informatics Research, 2012
ObjectivesRare disease research requires a broad range of disease-related information for the discovery of causes of genetic disorders that are maladies caused by abnormalities in genes or chromosomes. A rarity in cases makes it difficult for researchers
Heewon Seo   +6 more
doaj   +1 more source

The LOVD3 platform: efficient genome-wide sharing of genetic variants

open access: yesEuropean Journal of Human Genetics, 2021
Gene variant databases are the backbone of DNA-based diagnostics. These databases, also called Locus-Specific DataBases (LSDBs), store information on variants in the human genome and the observed phenotypic consequences.
I. Fokkema   +6 more
semanticscholar   +1 more source

Are genetic databases sufficiently populated to detect non-indigenous species?

open access: yesBiological Invasions, 2016
Correct species identifications are of tremendous importance for invasion ecology, as mistakes could lead to misdirecting limited resources against harmless species or inaction against problematic ones.
Elizabeta Briski   +3 more
semanticscholar   +1 more source

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

open access: yesNucleic Acids Research, 2010
High-throughput sequencing platforms are generating massive amounts of genetic variation data for diverse genomes, but it remains a challenge to pinpoint a small subset of functionally important variants.
Kai Wang, Mingyao Li, H. Hakonarson
semanticscholar   +1 more source

Exploring the mechanism of artificial selection signature in Chinese indigenous pigs by leveraging multiple bioinformatics database tools

open access: yesBMC Genomics, 2023
Background Chinese indigenous pigs in Yunnan exhibit considerable phenotypic diversity, but their population structure and the biological interpretation of signatures of artificial selection require further investigation.
Xueyan Feng   +9 more
doaj   +1 more source

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