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Related Concept Videos

Genetic Screens02:46

Genetic Screens

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Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
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Human Genetics01:28

Human Genetics

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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...
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Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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Pedigree Analysis01:35

Pedigree Analysis

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Overview
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Pleiotropy01:33

Pleiotropy

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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,...
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Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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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...
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Updated: Nov 4, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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PhenCards: a data resource linking human phenotype information to biomedical knowledge.

James M Havrilla1, Cong Liu2, Xiangchen Dong1

  • 1Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.

Genome Medicine
|May 26, 2021
PubMed
Summary
This summary is machine-generated.

PhenCards integrates biomedical knowledge for human clinical phenotypes. This database aids in identifying genetic diseases and candidate genes from patient symptoms, improving diagnostic and research capabilities.

Keywords:
Collaborative supportCommon diseaseDiseaseDrug targetsGeneticsMendelian diseasesNatural Language ProcessingPhenotypeRare disease

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Area of Science:

  • Biomedical Informatics
  • Clinical Genetics
  • Human Phenotype Research

Background:

  • Biomedical knowledge regarding human clinical phenotypes is often fragmented across various databases.
  • Efficiently connecting phenotype information to diseases, genes, and treatments remains a challenge for researchers and clinicians.

Purpose of the Study:

  • To develop PhenCards, a unified database and web server for comprehensive human clinical phenotype information.
  • To facilitate the identification of genetic diseases and candidate genes by analyzing phenotype terms from clinical notes.
  • To enable exploration of phenotype-related data, including drug interactions, gene associations, and comorbidity patterns.

Main Methods:

  • Developed a web server and database integrating diverse biomedical data sources.
  • Implemented algorithms to process user queries of phenotype terms or clinical notes.
  • Established data retrieval mechanisms for disease/phenotype prevalence, drug information, pathways, literature, grants, and collaborators.

Main Results:

  • PhenCards successfully aggregates previously disconnected biomedical knowledge related to human phenotypes.
  • The system can recommend probable genetic diseases and candidate genes based on input phenotype terms.
  • PhenCards provides insights into drug-phenotype relationships, gene-symptom associations, and phenotype comorbidities.

Conclusions:

  • PhenCards serves as a valuable one-stop resource for exploring human clinical phenotypes and associated biomedical data.
  • The platform enhances diagnostic capabilities by linking clinical observations to genetic information.
  • PhenCards supports further research into genotype-phenotype correlations and personalized medicine approaches.