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Genetic Screens02:46

Genetic Screens

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 result in visible changes...
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
Probability Laws01:49

Probability Laws

Overview
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...
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...

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Related Experiment Video

Updated: May 23, 2026

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
09:30

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

[Newborn screening as a predictive genetic test: principles and challenges].

Johannes Zschocke1

  • 1Division für Humangenetik, Medizinische Universität Innsbruck, Innsbruck, Austria. johannes.zschocke@i-med.ac.at

Wiener Medizinische Wochenschrift (1946)
|March 28, 2012
PubMed
Summary

Newborn screening has expanded due to technology, but not all conditions are suitable for screening. Establishing clear criteria and advisory boards ensures the long-term success of newborn screening programs.

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Last Updated: May 23, 2026

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
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Published on: August 25, 2019

Area of Science:

  • Medical Genetics
  • Public Health
  • Biochemistry

Context:

  • Universal newborn screening, initiated in the 1960s, has significantly advanced preventive medicine.
  • Recent technological progress has broadened the scope of newborn screening globally.
  • Expanded screening raises questions about the prudence of including all technically feasible conditions.

Purpose:

  • To present criteria for including new disorders in newborn screening programs.
  • To highlight metabolic disorders exemplifying current challenges in screening.
  • To advocate for transparent decision-making processes for screening program content.

Summary:

  • The article reviews criteria for adding new conditions to newborn screening.
  • It discusses challenges using examples of metabolic disorders.
  • It emphasizes the need for a transparent decision-making process.

Impact:

  • Informed decisions on expanding newborn screening programs.
  • Improved identification and prevention of inherited metabolic and endocrine disorders.
  • Enhanced societal acceptance of universal newborn screening through transparency and advisory boards.