Results 31 to 40 of about 654,837 (328)
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 differentiation of spring-spawning and fall-spawning male Atlantic sturgeon in the James River, Virginia [PDF]
, 2017 Atlantic sturgeon (Acipenser oxyrinchus oxyrinchus, Acipenseridae) populations are currently at severely depleted levels due to historic overfishing, habitat loss, and pollution.
Balazik, Matthew T. +3 more
core +4 more sources
Journal of Clinical and Translational Science, 2022 OBJECTIVES/GOALS: Despite advances in precision medicine and understanding of the molecular pathways, melanoma remains the deadliest skin cancer, warranting identification of novel biomarkers.
Reid McCallister +3 more
doaj +1 more source
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
The art of curation at a biological database: Principles and application
Current Plant Biology, 2017 The variety and quantity of data being produced by biological research has grown dramatically in recent years, resulting in an expansion of our understanding of biological systems. However, this abundance of data has brought new challenges, especially in
Sarah G. Odell +4 more
doaj +1 more source
Orphanet Journal of Rare Diseases, 2022 Background ENPP1 Deficiency—caused by biallelic variants in ENPP1—leads to widespread arterial calcification in early life (Generalized Arterial Calcification of Infancy, GACI) or hypophosphatemic rickets in later life (Autosomal Recessive ...
Lauren M. Chunn +6 more
doaj +1 more source
A taxonomic schema of potential pitfalls in clinical variant analysis based on real-world evidence.
PLoS ONE, 2023 The classification and interpretation of genetic variants associated with genetic diseases have been shown to vary between clinical genetic laboratories. This can lead to errors introduced in the interpretation and public presentation of genetic findings
Adam Coovadia +3 more
doaj +1 more source
Automated Database Indexing using Model-free Reinforcement Learning [PDF]
, 2020 Configuring databases for efficient querying is a complex task, often carried out by a database administrator. Solving the problem of building indexes that truly optimize database access requires a substantial amount of database and domain knowledge, the lack of which often results in wasted space and memory for irrelevant indexes, possibly ...
arxiv +1 more source
Are genetic databases sufficiently populated to detect non-indigenous species? [PDF]
, 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.
Bailey, Sarah +3 more
core +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