A major challenge in human genetics is understanding which parts of the genome drive specific traits or contribute to disease risk. This challenge is even greater for genetic variants found in the 98% of the genome that does not encode proteins.
A 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. 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.
Over the past two decades, genome-wide association studies (GWAS) have become an important tool for studying the human genome. 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. 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. GWAS can reveal what regions of the genome and potential variants are implicated in diseases or traits. 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.
By New York University
Article can be accessed on: MedicalXpress