Efficient Replication of Over 180 Genetic Associations with Self-Reported Medical Data [PDF]
, 2011 While the cost and speed of generating genomic data have come down dramatically in recent years, the slow pace of collecting medical data for large cohorts continues to hamper genetic research. Here we evaluate a novel online framework for amassing large
Amy K. Kiefer +10 more
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Utility of routine screening for alpha-1 antitrypsin deficiency in patients with bronchiectasis [PDF]
, 2020 Alpha-1 antitrypsin deficiency (AATD) is a cause of bronchiectasis. Guidelines for bronchiectasis from the British Thoracic Society do not recommend to routinely test patients for AATD. In contrast, guidelines for AATD recommend routine screening.
Carreto, Luis +9 more
core +3 more sources
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
The Human Phenotype Ontology in 2024: phenotypes around the world
Nucleic Acids Research, 2023 Abstract The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease, enabling computational inference and supporting genomic and phenotypic analyses through semantic similarity and machine learning algorithms.
Michael A Gargano +175 more
openaire +14 more sources
Targeted mutagenesis in mouse cells and embryos using an enhanced prime editor
Genome Biology, 2021 Prime editors, novel genome-editing tools consisting of a CRISPR-Cas9 nickase and an engineered reverse transcriptase, can induce targeted mutagenesis. Nevertheless, much effort is required to optimize and improve the efficiency of prime-editing. Herein,
Soo-Ji Park +11 more
doaj +1 more source
Improving Selection Efficiency of Crop Breeding With Genomic Prediction Aided Sparse Phenotyping
Frontiers in Plant Science, 2021 Increasing the number of environments for phenotyping of crop lines in earlier stages of breeding programs can improve selection accuracy. However, this is often not feasible due to cost.
Sang He +9 more
doaj +1 more source
High-Throughput Estimation of Crop Traits: A Review of Ground and Aerial Phenotyping Platforms
IEEE Geoscience and Remote Sensing Magazine, 2020 Crop yields need to be improved in a sustainable manner to meet the expected worldwide increase in population over the coming decades as well as the effects of anticipated climate change. Recently, genomics-assisted breeding has become a popular approach
Xiuliang Jin +12 more
semanticscholar +1 more source
The Role of Deep Phenotyping of Precision Medicine for Rare Bone Diseases
罕见病研究, 2023 Deep phenotyping is a precise and comprehensive approach used for the precise analysis and comprehensive assessment of multi-system phenotypes of the patients.
LI Guozhuang +5 more
doaj +1 more source
Age- and activity-related differences in the abundance of Myosin essential and regulatory light chains in human muscle [PDF]
, 2016 Traditional methods for phenotyping skeletal muscle (e.g., immunohistochemistry) are labor-intensive and ill-suited to multixplex analysis, i.e., assays must be performed in a series. Addressing these concerns represents a largely unmet research need but
Burniston, Jatin G. +5 more
core +4 more sources