相关实验视频

Updated: Jun 7, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

9.7K

国际疾病分类临床诊断代码与人体现象类型本体学术语之间的映射的影响

Amelia L M Tan1, Rafael S Gonçalves2, William Yuan1

  • 1Department of Biomedical Informatics, Harvard Medical School, Boston, MA 02115, United States.

JAMIA open
|November 19, 2024
PubMed
概括

电子健康记录 (EHR) 数据集成用于罕见疾病研究受到国际疾病分类 (ICD) 和人类表型本体学 (HPO) 之间的不良调整的阻碍. 这些关键本体学之间的有限映射限制了数据互操作性.

关键词:
数据互操作性数据的互操作性.在本体论上,本体论是存在的.实体学互操作性互操作性

更多相关视频

In Vivo Modeling of the Morbid Human Genome using Danio rerio12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

20.6K
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila00:06

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

13.6K

相关概念视频

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
12.5K
Incomplete Dominance01:43

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
21.6K
Pedigree Analysis01:35

Pedigree Analysis

Overview
84.0K
Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
535
Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
39.9K
Formulating and Validating Nursing Diagnosis I01:26

Formulating and Validating Nursing Diagnosis I

A nursing diagnosis is written when the nurse recognizes a cluster of essential patient data indicating health problems treated with independent nursing interventions. The standardized terminologies of a nursing diagnosis help nurses identify and treat patients' problems. Every electronic health record that uses nursing diagnosis must employ standard diagnostic terminology. Developing an efficient, individualized care plan begins with accurate nursing diagnoses.
There are thirteen domains...
2.6K