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Genomics

Genomics

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...

Genome Annotation and Assembly

Genome Annotation and Assembly

The genome refers to all of the genetic material in an organism. It can range from a few million base pairs in microbial cells to several billion base pairs in many eukaryotic organisms. Genome assembly refers to the process of taking the DNA sequencing data and putting it all back together in a correct order to create a close representation of the original genome. This is followed by the identification of functional elements on the newly assembled genome, a process called genome annotation.

Evolutionary Relationships through Genome Comparisons

Evolutionary Relationships through Genome Comparisons

Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...

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

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Increasing the genomic workforce through research capacity building: Designing evaluation plans for maximum impact.

Karyn J Roberts¹, Weini Ogbagiorgis², Angela Sy³

¹American College of Medical Genetics and Genomics, Bethesda, MD, USA.

American Journal of Human Genetics

|April 3, 2025

Summary

New NIH-funded Diversity Centers aim to boost genomics workforce diversity and research capacity. Common data elements streamline evaluation, enabling continuous improvement of diversity initiatives in genomics.

Keywords:

diversity genomics program evaluation workforce development

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Area of Science:

Genomics
Health Disparities Research
Workforce Development

Background:

Genomics research requires a diverse and capable workforce.
Existing interventions have not sufficiently addressed workforce diversity and research capacity building (RCB).

Purpose of the Study:

To establish a framework for evaluating interventions aimed at increasing diversity in genomics.
To streamline reporting and quality improvement for RCB initiatives.

Main Methods:

Development of a prospective evaluation plan by NIH program staff.
Creation of five common data elements (CDEs) for consistent data collection.
CDEs cover genomics programs, productivity, collaboration, community engagement, and workforce development.

Main Results:

A standardized evaluation approach using CDEs was established.
The CDEs facilitate synergistic reporting and continuous quality improvement.
The framework supports ongoing adjustment of RCB interventions.

Conclusions:

The Diversity Centers for Genome Research Consortium utilizes CDEs for effective evaluation.
This approach enhances the diversity of the genomics workforce.
Standardized evaluation is key to improving RCB interventions.