Despite all of our efforts during the past 10 years, the glass was still just half full-at best. “The huge success in GWAS has highlighted the challenge of extracting insights into disease biology from these massive data sets. “A major goal for the study of human diseases is to identify causal genes and variants, which can clarify biological mechanisms and inform drug targets for these diseases,” said Neville Sanjana, associate professor of biology at NYU, associate professor of neuroscience and physiology at NYU Grossman School of Medicine, a core faculty member at New York Genome Center, and the study’s co-senior author. Even when scientists can identify which variant is causing a disease or trait, they do not always know what gene the variant impacts. This can make it difficult to tease apart which variant plays a truly causal role from other variants that are just located nearby. A further complication is that many variants are found in close proximity to each other within the genome and travel together through generations, a concept known as linkage. However, these associations are nearly always found in the 98% of the genome that does not code for proteins, which is much less well understood than the well-studied 2% of the genome that codes for proteins. GWAS can reveal what regions of the genome and potential variants are implicated in diseases or traits. These studies are conducted by comparing the genomes of large populations to find variants that occur more often in those with a specific disease or trait. Using GWAS, scientists have identified thousands of genetic mutations or variants associated with many diseases, from schizophrenia to diabetes, as well as traits such as height. Over the past two decades, genome-wide association studies (GWAS) have become an important tool for studying the human genome. Their approach, dubbed STING-seq and published in Science, addresses the challenge of directly connecting genetic variants to human traits and health, and can help scientists identify drug targets for diseases with a genetic basis. This challenge is even greater for genetic variants found in the 98% of the genome that does not encode proteins.Ī new approach developed by researchers at New York University and the New York Genome Center combines genetic association studies, gene editing, and single-cell sequencing to address these challenges and discover causal variants and genetic mechanisms for blood cell traits. A major challenge in human genetics is understanding which parts of the genome drive specific traits or contribute to disease risk.
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