Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

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...
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.
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...
Pedigree Analysis01:35

Pedigree Analysis

Overview
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,...
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...

You might also read

Related Articles

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

Sort by
Same author

Recurrent ZC3H18 mutations stabilize oncogenic endogenous retroviral RNA.

Cell reports·2026
Same author

A massively parallel reporter assay of <i>MECP2</i> cis-regulatory elements reveals genetic candidates for male-biased autism.

bioRxiv : the preprint server for biology·2026
Same author

Kathleen H. Burns and Cheuk-Ting Law discuss research in LINEs.

Cell genomics·2026
Same author

Transposable Element Activation: A Hallmark of Cancer.

Cancer discovery·2026
Same author

LINE-1 retrotransposition is a recurrent cause of <i>MET</i> exon 14 skipping in cancer.

bioRxiv : the preprint server for biology·2026
Same author

Comparative genomics reveals LINE-1 recombination with diverse RNAs.

Cell genomics·2026
Same journal

Multi-omics profiles of sex hormone-binding globulin are associated with subclinical atherosclerosis in men with HIV.

Genome medicine·2026
Same journal

Multi-modal data integration reveals functionally credible predictive biomarkers in ovarian cancer.

Genome medicine·2026
Same journal

Human cancer genomes harbor the mutational signature of tobacco-specific nitrosamines NNN and NNK.

Genome medicine·2026
Same journal

Identification and functional characterization of regulatory variants in DPP9 associated with COVID-19 severity.

Genome medicine·2026
Same journal

De novo variants in NPTN cause a neurodevelopmental disorder with autism and neuroplastin-PMCA hypofunction.

Genome medicine·2026
Same journal

Dual functional genomics reveals a broad and convergent landscape of asciminib resistance in BCR::ABL1.

Genome medicine·2026
See all related articles

Related Experiment Video

Updated: Jun 1, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Massively parallel rare disease genetics.

Kathleen H Burns1, Aravinda Chakravarti

  • 1Department of Pathology, Johns Hopkins University School of Medicine, Ross Building Room 524, 720 Rutland Avenue, Baltimore, MD 21205, USA. kburns@jhmi.edu.

Genome Medicine
|June 4, 2011
PubMed
Summary
This summary is machine-generated.

This report summarizes the 2011 Genomic Disorders meeting focused on the genomics of rare diseases. Experts discussed advancements in understanding genetic conditions and their impact.

More Related Videos

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
14:06

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

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

Published on: August 20, 2019

Related Experiment Videos

Last Updated: Jun 1, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
14:06

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

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

Published on: August 20, 2019

Area of Science:

  • Genomics
  • Rare Diseases
  • Medical Genetics

Background:

  • Rare diseases collectively affect a significant portion of the population.
  • Understanding the genomic basis of rare diseases is crucial for diagnosis and treatment.
  • The 2011 Genomic Disorders meeting convened experts to discuss this critical area.

Purpose of the Study:

  • To report on the key discussions and findings from the 'Genomic Disorders 2011 - The Genomics of Rare Diseases' meeting.
  • To highlight advancements in the application of genomic technologies to rare disease research.
  • To foster collaboration and knowledge sharing among researchers in the field.

Main Methods:

  • The report is based on a summary of presentations and discussions from the conference.
  • Key themes and emerging trends in rare disease genomics were identified.
  • Expert opinions and research highlights were synthesized.

Main Results:

  • Significant progress has been made in identifying disease-causing genes for rare conditions through genomic sequencing.
  • New genomic technologies are improving diagnostic yields for patients with undiagnosed rare diseases.
  • The meeting underscored the importance of large-scale data sharing and collaborative research efforts.

Conclusions:

  • Genomic approaches are revolutionizing the study and clinical management of rare diseases.
  • Continued investment in genomic research and infrastructure is essential for advancing rare disease understanding.
  • The integration of genomics into clinical practice holds promise for improving patient outcomes.