Genomics 2.0: Trusted research environments to manage 500M genomes

Introduction

Image courtesy of Pixabay

The study of genetics dates to the mid-19th century, from the works of Gregor Mendel, but it wasn’t until the second half of the 20th century that the field of genetics made great strides. The completion of the Human Genome Project and other significant technological advances were the driving factors for this significant impact. In light of these advances, more than 1,800 disease genes have been discovered, and more than 2000 genetic tests have become available to the public.

Advances in technology such as next-generation sequencing (NGS) have allowed scientists to perform experiments at a rate that was never possible before. NGS is a DNA sequencing technology that allows the whole genome of an individual to be sequenced within one day, producing a large amount of clinical health data. Unfortunately, maintaining small data sets in a centralized location for analysis (Ge…

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NIH providing $185M to boost research into how human genome functions

The National Institutes of Health (NIH) announced a plan to provide approximately $185 million over five years to a consortium researching genomic variation.

Initiated and funded by NIH’s National Human Genome Research Institute (NHGRI), the Impact of Genomic Variation on Function (IGVF) consortium will receive the $185 million over five years in the form of 25 awards across 30 U.S. research sites to continue working to understand how genomic variation alters human genome function and influences human health and disease, according to a news release.

NIH said that, by integrating experimental methods with advanced computer models, the IGVF consortium will identify which variants in the genome are relevant for health and disease, producing information that will be of critical importance to clinicians.

All information generated by the consortium will be made freely available to the research community through a web portal to assist with future research…

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