Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Pharmacogenetics and Pharmacogenomics: Overview

Pharmacogenetics and Pharmacogenomics: Overview

Pharmacogenetics and pharmacogenomics examine how genetic factors influence an individual's response to drugs. While pharmacogenetics focuses on the impact of specific genetic variants on drug effects, pharmacogenomics takes a broader approach, studying how genetic variation across populations contributes to differences in drug responses. These fields aim to explain why individuals may experience varying levels of efficacy or adverse reactions to the same medication.Variability in drug...

Pharmacogenomics: Identification of New Drug Targets

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...

Behavioral Genetics and Its Designs

Behavioral Genetics and Its Designs

Behavior genetics explores how genetic inheritance influences human behavior. It focuses on how genes, passed from parents to offspring, contribute to the development of behavioral traits and tendencies. This branch of genetics seeks to understand the complex interplay between inherited genetic factors and environmental influences in shaping our behaviors.
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...

Genomic Imprinting and Inheritance

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...

Incomplete Dominance

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.

Human Genetics

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...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation.

American journal of human genetics·2025

Same author

Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome.

Frontiers in genetics·2023

Same author

Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.

Genetics in medicine : official journal of the American College of Medical Genetics·2023

Same author

SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia.

Brain : a journal of neurology·2023

Same author

Teaching perspectives on the communication of difficult news of genetic conditions to medical students.

American journal of medical genetics. Part A·2022

Same author

A novel SYNJ1 homozygous variant causing developmental and epileptic encephalopathy in an Afro-Caribbean individual.

Molecular genetics & genomic medicine·2022

Search research articles

Related Experiment Video

Updated: Jun 21, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Evidence-based medicine and practice guidelines: application to genetics.

Helga V Toriello¹, Paula Goldenberg

¹Spectrum Health-Genetics, 25 Michigan St. Suite 2000, Grand Rapids, MI 49503, USA. Helga.toriello@spectrum-health.org

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics

|July 22, 2009

Summary

Developing evidence-based clinical genetics practice guidelines presents challenges for medical geneticists. This review examines the difficulties in creating these crucial documents for the American College of Medical Genetics.

Related Experiment Videos

Last Updated: Jun 21, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Area of Science:

Medical Genetics
Clinical Practice Guidelines

Background:

The American College of Medical Genetics' Professional Practice and Guidelines Committee oversees clinical genetics practice guidelines.
Historically, guidelines relied heavily on expert opinion.
There is a recent shift towards evidence-based guidelines and acknowledging evidence levels.

Purpose of the Study:

To review the challenges faced by geneticists in developing practice guidelines.
To highlight the transition from expert opinion to evidence-based approaches in medical genetics.

Main Methods:

Review of current practices and challenges in guideline development.
Analysis of the shift towards evidence-based medicine in genetics.

Main Results:

Guideline development requires navigating the complexities of evidence appraisal.
Recognizing and reporting the level of evidence is a key challenge.

Conclusions:

Developing robust, evidence-based practice guidelines in clinical genetics is complex.
Addressing these challenges is crucial for advancing the field of medical genetics.