Deep Phenotyping ofPDE6C-Associated Achromatopsia
نویسندگان
چکیده
منابع مشابه
Deep phenotyping for precision medicine.
In medical contexts, the word "phenotype" is used to refer to some deviation from normal morphology, physiology, or behavior. The analysis of phenotype plays a key role in clinical practice and medical research, and yet phenotypic descriptions in clinical notes and medical publications are often imprecise. Deep phenotyping can be defined as the precise and comprehensive analysis of phenotypic a...
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Objectives: Given the quickening speed of discovery of variant disease drivers from combined patient genotype and phenotype data, the objective is to provide methodology using big data technology to support the definition of deep phenotypes in medical records. Methods: As the vast stores of genomic information increase with next generation sequencing, the importance of deep phenotyping increase...
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High resolution and high throughput, genotype to phenotype studies in plants are underway to accelerate breeding of climate ready crops. Complex developmental phenotypes are observed by imaging a variety of accessions in different environment conditions, however extracting the genetically heritable traits is challenging. In the recent years, deep learning techniques and in particular Convolutio...
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Deep Phenotyping is the precise and comprehensive analysis of Background: phenotypic features, where the individual components of the phenotype are observed and described. In UK mental health clinical practice, most clinically relevant information is recorded as free text in the Electronic Health Record, and offers a granularity of information beyond that expressed in most medical knowledge bas...
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Next-generation DNA sequencing technologies have revolutionized diverse genomics applications, including de novo genome sequencing, SNP detection, chromatin immunoprecipitation, and transcriptome analysis. Here we apply deep sequencing to genome-scale fitness profiling to evaluate yeast strain collections in parallel. This method, Barcode analysis by Sequencing, or "Bar-seq," outperforms the cu...
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ژورنال
عنوان ژورنال: Investigative Opthalmology & Visual Science
سال: 2019
ISSN: 1552-5783
DOI: 10.1167/iovs.19-27761