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In largest whole genome sequence analysis study, Human Longevity, Inc.-led team identifies common-to-rare variants in the Human Blood Metabolome

The study shows the power of whole genome sequencing and analysis to uncover new variants missed in exome or genotyping arrays.

SAN DIEGO / via PRNewswire /  Researchers from Human Longevity, Inc. (HLI), the genomics-based, health intelligence company, have published results from the largest whole genome sequencing and analysis of blood metabolites. They were able to link 101 new sites in the genome to 246 metabolites and uncovered 90 rare variants that led to abnormal blood levels of certain metabolites. This work extends the known world of loci affecting the metabolome and highlights the surprising fact that there are more rare variants associated with abnormal blood metabolic phenotypes in adults than previously thought.

The paper, led by first author Tao Long, Ph.D., formerly at HLI and now at Sanford Burnham Prebys Medical Discovery Institute, and senior author Amalio Telenti, M.D., Ph.D., HLI Chief Scientific Officer, is published today in the journal Nature Genetics. The study was the result of a collaboration of HLI, Metabolon and researchers from the TwinsUK study. Metabolon uses ultra-high-performance liquid chromatography tandem mass spectrometry technology to measure blood metabolites.

The HLI-led team conducted whole genome analysis and comprehensive metabolite profiling on 1,960 adults, including 413 monozygotic twin pairs and 552 dizygotic twin pairs focusing on 644 specific blood metabolites. The study group had been seen in three clinical visits over an 18-year period. The team uncovered that 113 people or 10% of the 1,054 non-related people in the study, carried heterozygous rare variants that influence the function of 17 genes. Of these 17 genes 13 are associated with inborn metabolic errors and other pediatric genetic disorders.

The team concluded that these rare variants associated with abnormal blood metabolite profiles are higher than thought in adult populations and could be important factors in adult health. The researchers believe that much more research should be done to further examine the clinical consequences and significance of these rare variants.

Dr. Telenti stated, “The collection of small molecules and chemicals in blood called the metabolome reflect the intimate workings of our body. It was very surprising to us that so many adults would display abnormalities in blood metabolites, and that a high proportion would be the result of genetic defects. We believe the metabolome should be a continued area of research, and our findings today highlight the importance of looking holistically at the human body and all the components that factor into our health and potential for disease.”

About Human Longevity, Inc™
Human Longevity, Inc. (HLI) is the genomic-based, health intelligence company empowering proactive healthcare and enabling a life better lived. HLI combines the largest database of genomic and phenotypic data with machine learning to drive discoveries and revolutionize the practice of medicine. HLI’s business areas include the HLI Health Nucleus, a genomic powered clinical research center which uses whole genome sequence analysis, advanced clinical imaging and innovative machine learning, along with curated personal health information, to deliver the most complete picture of individual health; HLIQ Whole Genome and HLIQ Oncology. For more information, please visit or

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