Now: Largest Catalog of Human Genetic Diversity

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Largest catalog of human genetic diversity

NIH Research Matters

At a Glance

  • Researchers have created a massive catalog of human genome data, along with tools to understand it.
  • Using DNA from over 140,000 people, they analyzed genomic variation, how variants affect gene function, and which may cause disease or serve as new drug targets.

The genome is the complete set of your DNA, including all of your genes. The human genome was first decoded nearly two decades ago. The genetic sequencing of thousands of genomes has allowed researchers to begin to understand how the human body is built and maintained.

But each person’s genome is unique. Not enough genomes have been sequenced to understand all the ways that genetic variation can contribute to disease. To better understand the genetic diversity of the human genome, the Genome Aggregation Database (gnomAD) Consortium was formed over eight years ago to collect and study the genomes of people around the world.

The international gnomAD team of over 100 scientists released its first set of discoveries in a collection of seven papers published on May 27, 2020 in Nature, Nature Communications, and Nature Medicine. The work was funded in part by several NIH institutes (see Funding section below for full list).

The flagship paper cataloged the genetic variation ….read more:

Biography
Carol graduated from Riverside White Cross School of Nursing in Columbus, Ohio and received her diploma as a registered nurse. She attended Bowling Green State University where she received a Bachelor of Arts Degree in History and Literature. She attended the University of Toledo, College of Nursing, and received a Master’s of Nursing Science Degree as an Educator.

She has traveled extensively, is a photographer, and writes on medical issues. Carol has three children RJ, Katherine, and Stephen – two daughters-in-law; Suzy and Katie – two granddaughters; Isabella Marianna and Zoe Olivia – and one grandson, Alexander Paul. She also shares her life with husband Gordon Duff, many cats, and two rescue pups.

Carol’s Archives 2009-2013
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