GnomAD Consortium Details Range of Human Genetic Variation from Large Dataset


In a study published in the journal Nature, scientists from the Genome Aggregation Database (gnomAD) Consortium generated a reference map of structural variants from over 14,800 human genome sequences representing diverse global populations. Structural variants are rearrangements of large segments of DNA that can alter the structure of genes, disrupt protein function, and contribute to disease. The researchers identified more than 430,000 structural variants across multiple genomes to create a new reference map, and used data generated from 1000 Genomes samples to evaluate their map. A major finding of the study is that structural variants represent more than 25% of all rare protein-truncating events located within protein-coding genes, suggesting these data could serve as an important clinical diagnostics tool for understanding the genetic basis of disease. This study highlights how development of novel genomic resources, that are open-access and free to the public, can be used to support new discoveries while providing clinical utility for interpreting the genomic impact of structural rearrangements across populations.

For more information, a short summary can be found on GenomeWeb. The complete research article, “A structural variation reference for medical and population genetics.” by Collins et al., was published in Nature.

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