Largest repositories of genomic data

Written by: Stephen Hsu

Primary Source:  Information Processing

This list of the largest repositories of genetic data appeared in the 25 September 2015 issue of Science. Note that the quality and extent of phenotyping varies significantly.

23andME

SIZE: >1 million GENETIC DATA: SNPs

This popular personal genomics company now hopes to apply its data to drug discovery (see main story, p. 1472).

ANCESTRY.COM

SIZE: >1 million GENETIC DATA: SNPs

This genealogy firm now has a collaboration with the Google-funded biotech Calico to look for longevity genes.

HUMAN LONGEVITY, INC.

SIZE: 1 million planned GENETIC DATA: whole genomes

Founded by genome pioneer Craig Venter, this company plans to sequence 100,000 people a year to look for aging-related genes.

100K WELLNESS PROJECT

SIZE: 107 (100,000 planned) GENETIC DATA: whole genomes

Led by another sequencing leader, Leroy Hood, this project is taking a systems approach to genetics and health.

MILLION VETERAN PROGRAM

SIZE: 390,000 (1 million planned) GENETIC DATA: SNPs, exomes, whole genomes

This U.S. Department of Defense–funded effort is probing the genetics of kidney and heart disease and substance abuse.

U.S. NATIONAL RESEARCH COHORT

SIZE: 1 million planned GENETIC DATA: to be determined

Part of President Obama’s Precision Medicine Initiative, this project will use genetics to tailor health care to individuals.

UK BIOBANK

SIZE: 500,000 GENETIC DATA: SNPs

Study of middle-aged British is probing links between lifestyle, genes, and common diseases.

100,000 GENOMES PROJECT

SIZE: 5500 (75,000 normal + 25,000 tumor genes planned) GENETIC DATA: whole genomes

This U.K.-funded project focusing on cancer and rare diseases aims to integrate whole genomes into clinical care.

deCODE GENETICS

SIZE: 140,000 GENETIC DATA: SNPs, whole genomes

Now owned by Amgen, this pioneering Icelandic company hunted for disease-related genes in the island country.

KAISER-PERMANENTE BIOBANK

SIZE: 200,000 (500,000 planned) GENETIC DATA: SNPs

This health maintenance organization has published on telomeres and disease risks.

GEISINGER MYCODE

SIZE: 60,000 (250,000 planned) GENETIC DATA: exomes

Geisinger, a Pennsylvania health care provider, works with Regeneron Pharmaceuticals to study DNA links to disease.

VANDERBILT’S BIOVU

SIZE: 192,000 GENETIC DATA: SNPs

Focused on genes that affect common diseases and drug response, BioVU data have been permanently deidentified.

BIOBANK JAPAN

SIZE: 200,000 GENETIC DATA: SNPs

This study collected DNA from volunteers between 2003 and 2007 and is now looking at genetics of common diseases.

CHINA KADOORIE BIOBANK

SIZE: 510,000 GENETIC DATA: SNPs

This study is probing links between genetics, lifestyle and common diseases.

EAST LONDON GENES & HEALTH

SIZE: 100,000 planned GENETIC DATA: exomes

One aim is to find healthy “human knockouts”—people who lack a specific gene—in a population in which marrying relatives is common.

SAUDI HUMAN GENOME PROGRAM

SIZE: 100,000 planned GENETIC DATA: exomes

One aim of this national project is to find genes underlying rare inherited conditions.

CHILDREN’S HOSPITAL OF PHILADELPHIA

SIZE: 100,000 GENETIC DATA: SNPs, exomes

The world’s largest pediatric biorepository connects DNA to the hospital’s health records for studies of childhood diseases.

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Stephen Hsu
Stephen Hsu is vice president for Research and Graduate Studies at Michigan State University. He also serves as scientific adviser to BGI (formerly Beijing Genomics Institute) and as a member of its Cognitive Genomics Lab. Hsu’s primary work has been in applications of quantum field theory, particularly to problems in quantum chromodynamics, dark energy, black holes, entropy bounds, and particle physics beyond the standard model. He has also made contributions to genomics and bioinformatics, the theory of modern finance, and in encryption and information security. Founder of two Silicon Valley companies—SafeWeb, a pioneer in SSL VPN (Secure Sockets Layer Virtual Private Networks) appliances, which was acquired by Symantec in 2003, and Robot Genius Inc., which developed anti-malware technologies—Hsu has given invited research seminars and colloquia at leading research universities and laboratories around the world.
Stephen Hsu

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