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Big data keeps genomic insights coming

January 3, 2019

big data and human biobanks create genetic insights

Combining big data about people and their genes yields surprising insights, including new clues that help explain individual differences in activity levels (as well as the consequences of those differences), and the origin of red hair.

In the activity-level research, University of Oxford scientists identified 14 genetic regions related to activity and sleep duration, seven of which are new to science, according to a UK Biobank news release. “How and why we move isn’t all about genes, but understanding the role genes play will help improve our understanding of the causes and consequences of physical inactivity,” said Dr. Aiden Doherty, who led the work. “It is only by being able to study large amounts of data … that we are able to understand the complex genetic basis of even some of the most basic human functions like moving, resting and sleeping.”

In the hair-color research, led by Edinburgh University, scientists discovered that red hair hinges on more than a single gene, MC1R, as previously thought. “When they compared redheads with people with brown or black hair, scientists identified eight previously unknown genetic differences that are associated with ginger locks,” BBC News reported. The researchers also identified nearly 200 genes associated with blond and brown hair.

Although these insights don’t initially point directly to disease cures, they exemplify the immense power of biobanking, machine learning, data analysis, genomics, and research on the human biospecimens from which essential data originates. The goal of this work is to help scientists learn why some people develop particular conditions and others don’t, then use that information to prevent, treat and cure disease.

The critical role of biobanking

Both projects relied on the UK Biobank, which is following 500,000 volunteers to benefit medicine and researchers around the world. The hair-color work examined the DNA of nearly 350,000 people who had taken part in the UK Biobank study. The activity research studied the activity and genes of more than 90,000 UK Biobank participants who had worn activity monitors. The work also involved 200 volunteers who wore cameras to capture their activity.

Human biospecimens carry the data

From 2006 to 2010, UK Biobank recruited 500,000 people from across the country from 40 to 69 years old for the project. They have provided blood, urine and saliva samples for analysis, detailed information about themselves, and agreed to have their health followed.

Learn More About Biospecimens

Human biofluids, tissue and cells contain more information within them than patients can ever know about themselves, or than a doctor can know about a patient. Through our extensive supplier network, the iSpecimen Marketplace provides researchers with access to more than 25 million banked specimens and clinical remnants, along with de-identified patient data, and supports even the most complex custom collections when needed.

Our mission, like those of the world’s most prominent biobanks, is to keep the insights coming.

Learn about the iSpecimen Marketplace where you can browse millions of richly annotated, de-identified human tissue and biofluid biospecimens, in addition to hematopoietic and immune cell products. You can join for free and creating a login is easy. Request a quote or custom collection today. 

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