Results 31 to 40 of about 5,268,956 (336)
Frontiers in Plant Science, 2015 Plant reproductive transcriptomes have been analysed in different species due to the agronomical and biotechnological importance of plant reproduction.
Rosario M. Carmona +12 more
doaj +1 more source
1st INCF Workshop on Genetic Animal Models for Brain Diseases [PDF]
, 2011 The INCF Secretariat organized a workshop to focus on the “role of neuroinformatics in the processes of building, evaluating, and using genetic animal models for brain diseases” in Stockholm, December 13–14, 2009.
Holm Graessner, Olaf Riess
core +2 more sources
CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants
Human 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
Arginase 1 Deficiency: using genetic databases as a tool to establish global prevalence
Orphanet 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
Acta 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
GSD: a genetic screen database
Mechanisms of Development, 2004 The systematic assignment of gene function to a sequenced genome is one of the outstanding challenges in the post-genomic era. Large-scale systematic mutagenesis screens are important tools for reaching this goal. Here we describe GSD, a software package that allows storage and integration of data from genetic screens. GSD was initially developed for a
Erik Segerdell +6 more
openaire +3 more sources
HGVbaseG2P: a central genetic association database [PDF]
Nucleic Acids Research, 2009 The Human Genome Variation database of Genotype to Phenotype information (HGVbaseG2P) is a new central database for summary-level findings produced by human genetic association studies, both large and small. Such a database is needed so that researchers have an easy way to access all the available association study data relevant to their genes, genome ...
Thorisson, Gudmundur A. +7 more
openaire +4 more sources
Genetic database software as medical devices [PDF]
Human Mutation, 2018 This article provides a primer on medical device regulations in the United States, Europe, and Canada. Software tools are being developed and shared globally to enhance the accessibility and usefulness of genomic databases. Interactive software tools, such as email or mobile alert systems providing variant classification updates, are opportunities to ...
Adrian Thorogood +4 more
openaire +3 more sources
Development of Korean Rare Disease Knowledge Base [PDF]
Healthcare 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
European 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