Results 21 to 30 of about 365,010 (246)
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
npj Genomic Medicine, 2023 Von Willebrand disease (VWD) is a common bleeding disorder caused by mutations in the von Willebrand factor gene (VWF). The true global prevalence of VWD has not been accurately established.
Omid Seidizadeh +4 more
doaj +1 more source
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
Psychosocial Outcomes in Patients With Endocrine Tumor Syndromes: A Systematic Review
Pediatric Blood &Cancer, EarlyView.ABSTRACT Introduction The combination of disease manifestations, the familial burden, and varying penetrance of endocrine tumor syndromes (ETSs) is unique. This review aimed to portray and summarize available data on psychosocial outcomes in patients with ETSs and explore gaps and opportunities for future research and care.
Daniël Zwerus +6 more
wiley +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
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
Henrich, Thorsten +6 more
openaire +2 more sources
Pediatric Blood &Cancer, EarlyView.ABSTRACT Background The Improving Population Outcomes for Renal Tumours of childhood (IMPORT) is a prospective clinical observational study capturing detailed demographic and outcome data on children and young people diagnosed with renal tumours in the United Kingdom and the Republic of Ireland.
Naomi Ssenyonga +56 more
wiley +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 +2 more sources
Pediatric Blood &Cancer, EarlyView.ABSTRACT Introduction We developed MedSupport, a multilevel medication adherence intervention designed to address root barriers to medication adherence. This study sought to explore the feasibility and acceptability of the MedSupport intervention strategies to support a future full‐scale randomized controlled trial.
Elizabeth G. Bouchard +8 more
wiley +1 more source