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Related Concept Videos

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...
Karyotyping01:17

Karyotyping

Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...
Karyotyping01:17

Karyotyping

Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...
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...
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...
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.

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Updated: Jun 21, 2026

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

Published on: August 17, 2022

Quality in clinical genetics.

Marc S Williams1

  • 1Intermountain Healthcare Clinical Genetics Institute, 324 10th Ave. Suite 130, Salt Lake City, UT 84103, USA. marc.williams@imail.org

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|July 22, 2009
PubMed
Summary
This summary is machine-generated.

Quality improvement (QI) methods can enhance medical care, but clinical genetics faces unique challenges. This article explores these obstacles for rare disorders, introducing new research in the field.

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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

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Last Updated: Jun 21, 2026

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FISH for Pre-implantation Genetic Diagnosis
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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

Area of Science:

  • Medical quality improvement
  • Clinical genetics
  • Rare disease diagnostics

Background:

  • Quality improvement (QI) techniques are increasingly adopted in medicine to enhance care quality, standardize practices, and optimize patient outcomes and costs.
  • Clinical genetics is an emerging field for QI application, lagging behind other medical specialties.
  • The unique nature of clinical genetics, characterized by rare and ultra-rare disorders, presents specific hurdles for QI implementation.

Discussion:

  • Addressing the challenges of applying QI in clinical genetics is crucial for advancing patient care.
  • The rarity of conditions in clinical genetics necessitates tailored QI approaches.
  • This article serves as an introduction to the complexities and potential solutions for QI in this specialized field.

Key Insights:

  • QI has the potential to significantly improve the quality and efficiency of medical care.
  • Clinical genetics presents distinct challenges for QI implementation due to the prevalence of rare and ultra-rare diseases.
  • Overcoming these challenges is essential for optimizing outcomes in genetic medicine.

Outlook:

  • Future research should focus on developing and adapting QI methodologies for the complexities of clinical genetics.
  • Continued exploration of QI applications will be vital for advancing the field of rare disease management.
  • This issue of Seminars aims to stimulate further discussion and innovation in quality improvement within clinical genetics.