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

Human Genetics01:28

Human Genetics

1.2K
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...
1.2K
Genomics02:02

Genomics

39.1K
Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
39.1K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

15.0K
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...
15.0K
Genomic DNA in Eukaryotes00:58

Genomic DNA in Eukaryotes

51.5K
Eukaryotes have large genomes compared to prokaryotes. To fit their genomes into a cell, eukaryotic DNA is packaged extraordinarily tightly inside the nucleus. To achieve this, DNA is tightly wound around proteins called histones, which are packaged into nucleosomes that are joined by linker DNA and coil into chromatin fibers. Additional fibrous proteins further compact the chromatin, which is recognizable as chromosomes during certain phases of cell division.
51.5K
Exon Recombination02:32

Exon Recombination

3.9K
The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
Exon shuffling follows “splice frame rules.” Each exon...
3.9K
DNA Microarrays02:34

DNA Microarrays

20.0K
Microarrays are high-throughput and relatively inexpensive assays that can be automated to analyze large quantities of data at a time. They are used in genome-wide studies to compare gene or protein expression under two varied conditions, such as healthy and diseased states. Microarrays consist of glass or silica slides on which probe molecules are covalently attached through surface functionalization. Most commonly, the slides are prepared through the chemisorption of silanes to silica...
20.0K

You might also read

Related Articles

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

Sort by
Same author

Short report: Targeted analysis of whole exome sequencing data in Indian cryptogenic stroke patients.

PloS one·2026
Same author

AI succeeds in diagnosing rare diseases.

Nature·2026
Same author

The Presence of Leishmania infantum DNA in Sand Flies Reflects Their Proximity to Human and Canine Visceral Leishmaniasis.

The American journal of tropical medicine and hygiene·2026
Same author

The blood transcriptome of the human congenital generalized lipodystrophy.

Endocrine·2025
Same author

Whole exome sequencing shows novel COL4A3 and COL4A4 variants as causes of Alport syndrome in Rio Grande do Norte, Brazil.

BMC genomics·2025
Same author

Growth and Survival of a Cohort of Congenital Zika Virus Syndrome Children Born With Microcephaly and Children Who Developed With Microcephaly After Birth.

The Pediatric infectious disease journal·2025

Related Experiment Video

Updated: Dec 4, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

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

Published on: April 4, 2018

34.4K

Reference exome data for a Northern Brazilian population.

Alexia L Weeks1, Richard W Francis1, Joao I C F Neri2

  • 1Telethon Kids Institute, The University of Western Australia, Perth Children's Hospital, Western Australia, Perth, Australia.

Scientific Data
|October 22, 2020
PubMed
Summary

This study catalogs genetic variants from 45 Brazilian babies, aiding rare disease diagnosis. The findings provide crucial population-specific data for clinical genetics in Brazil.

More Related Videos

Author Spotlight: Genetic Profiling for Fluorouracil Response in Gastric Cancer
06:21

Author Spotlight: Genetic Profiling for Fluorouracil Response in Gastric Cancer

Published on: May 10, 2024

1.0K
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

10.2K

Related Experiment Videos

Last Updated: Dec 4, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

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

Published on: April 4, 2018

34.4K
Author Spotlight: Genetic Profiling for Fluorouracil Response in Gastric Cancer
06:21

Author Spotlight: Genetic Profiling for Fluorouracil Response in Gastric Cancer

Published on: May 10, 2024

1.0K
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

10.2K

Area of Science:

  • Genomics
  • Clinical Genetics
  • Population Genetics

Background:

  • Exome sequencing is vital for diagnosing rare genetic disorders and analyzing complex diseases.
  • A lack of population-specific reference data hinders accurate variant interpretation in clinical settings.
  • This study addresses the need for localized genomic data in Brazil.

Purpose of the Study:

  • To create a comprehensive catalog of exomic variants from a Brazilian cohort.
  • To provide essential reference data for improving rare disease diagnosis in Brazil.
  • To identify pathogenic variants using established clinical guidelines.

Main Methods:

  • Whole exome sequencing was performed on 45 infants from Rio Grande do Nord, Brazil.
  • Sequence data were processed using an intersect-then-combine (ITC) approach with GATK and SAMtools.
  • Variant annotation and pathogenicity assessment followed American College of Medicine Genetics and Genomics (ACMG) guidelines.

Main Results:

  • A total of 612,761 variants were identified across the cohort.
  • This included 559,448 single nucleotide variants (SNVs) and 53,313 insertion/deletions.
  • 185 variants (0.32%) were classified as pathogenic or likely pathogenic based on ACMG criteria.

Conclusions:

  • The generated variant catalog serves as a valuable resource for rare disease diagnosis in Brazil.
  • This population-specific data enhances the accuracy of variant interpretation for Brazilian patients.
  • The study underscores the importance of localized genomic databases in clinical genetics.