Related Experiment Video

Updated: May 15, 2025

Rare Event Detection Using Error-corrected DNA and RNA Sequencing
10:36

Rare Event Detection Using Error-corrected DNA and RNA Sequencing

Published on: August 3, 2018

11.9K

Sequencing and health data resource of children of African ancestry

Leah C Kottyan1,2,3,4, Scott Richards3,4, Morgan E Tracy3,5

  • 1Department of Pediatrics. College of Medicine. University of Cincinnati. Cincinnati, Ohio.

Medrxiv : the Preprint Server for Health Sciences
|April 8, 2025
PubMed

Insights

This study created a large DNA sequencing resource from 15,684 Black or African American individuals, enhancing genetic research for underrepresented populations and disease risk. The data supports genetic studies and identifies novel asthma severity loci.

Area of Science:

  • Genomics
  • Population Genetics
  • Health Disparities

Background:

  • Genome-wide studies historically underrepresent Black or African American individuals, particularly in pediatric disease research.
  • This disparity limits understanding of genetic contributions to disease risk in diverse populations.

Purpose of the Study:

  • To address the underrepresentation of Black or African American individuals in genomic studies.
  • To establish a comprehensive DNA sequencing resource and biorepository for pediatric disease research.
  • To create a valuable data resource for future genetic research and analysis.

Main Methods:

  • Established the CCHMC Discover Together Biobank, enrolling 15,684 individuals who self-identified as Black or African American.
  • Sequenced participants' DNA and performed admixture analyses to confirm genetic ancestry.
  • Linked genetic data with electronic medical records for comprehensive analysis.

Main Results:

  • Developed a high-quality dataset of genome-wide genotypes and medical data available through the Genomic Information Commons.
  • Successfully replicated known genetic associations for sickle cell disease, anxiety, and asthma.
  • Identified novel genetic loci associated with asthma severity.

Conclusions:

  • The presented dataset and analytical framework provide a valuable resource for genetic studies in underrepresented populations.
  • Co-developed a data use and research framework in partnership with a community advisory council.
  • This resource will advance understanding of genetic disease risk and inform precision medicine for Black or African American individuals.
Abstract

More Related Videos

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease09:34

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

Published on: April 4, 2018

33.4K
Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER14:06

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

Published on: June 23, 2012

15.1K

Related Concept Videos

Next-generation Sequencing03:00

Next-generation Sequencing

The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
86.3K
Maxam-Gilbert Sequencing01:05

Maxam-Gilbert Sequencing

In the same year as the discovery of the Sanger sequencing method, another group of scientists, Allan Maxam and Walter Gilbert, demonstrated their chemical-cleavage method for DNA sequencing. The Maxam-Gilbert method relies on using different chemicals that can cleave the DNA sequence at specific sites, the separation of resulting DNA fragments of variable size using electrophoresis, and deciphering the DNA sequence from the resulting gel bands.
Challenges of the Maxam-Gilbert Method
The...
10.6K
Sanger Sequencing01:57

Sanger Sequencing

DNA sequencing is a fundamental technique that is routinely used in the biological sciences. This method can be applied to a range of questions at different scales - from the sequencing of a cloned DNA fragment or the study of a mutation in a gene up to whole-genome sequencing. However, despite the widespread use of sequencing today, it was not until 1977 that Fredrick Sanger and his collaborators developed the chain-termination method to decode DNA sequences. It relies on the separation of a...
751.4K
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...
12.2K
Statistical Software for Data Analysis and Clinical Trials01:12

Statistical Software for Data Analysis and Clinical Trials

Statistical software is pivotal in data analysis and clinical trials by providing tools to analyze data, draw conclusions, and make predictions. These software packages range from simple data management applications to complex analytical platforms, supporting various statistical tests, models, and simulation techniques. Their significance lies in their ability to handle vast amounts of data with precision and efficiency, enabling researchers to validate hypotheses, identify trends, and make...
428
RNA-seq03:21

RNA-seq

RNA sequencing, or RNA-Seq, is a high-throughput sequencing technology used to study the transcriptome of a cell. Transcriptomics helps to interpret the functional elements of a genome and identify the molecular constituents of an organism. Additionally, it also helps in understanding the development of an organism and the occurrence of diseases. 
Before the discovery of RNA-seq, microarray-based methods and Sanger sequencing were used for transcriptome analysis. However, while...
9.7K