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Variants in mitochondrial DNA (mtDNA), which are detectable in whole-genome sequencing (WGS) data, can cause a wide range of phenotypes of varying severity. The authors call for a wider debate on the communication of uncertainties around mtDNA variants and the risks versus benefits of screening.
Capturing rare protein-coding variation by whole-exome sequencing in large and diverse population samples can help identify large-effect associations and drug targets, suggest two recent publications.
Elaine Mardis highlights a publication that served as a fundamental source of inspiration for the field of immunogenomics, setting the stage for neoantigen discovery.
A new study by Ahn et al. shows that chimeric proteins containing intrinsically disordered regions mediate oncogenesis by inducing liquid–liquid phase separation and thereby affecting chromatin conformation and transcription.
Omics methods can be used to mine the genomes of diverse organisms, from microorganisms to plants and animals, for the discovery of natural products and their biosynthetic genes. In this Review, the authors review the why, what, where and how of genome mining.
Long-read sequencing at the population scale presents specific challenges but is becoming increasingly accessible. In this Review, Sedlazeck and colleagues discuss the major platforms and analytical tools, considerations in project design and challenges in scaling long-read sequencing to populations.
Differences of sex development (DSD) are under-diagnosed, partly because of the complexity of conditions included under this umbrella terminology. This Review discusses the potential of genomic approaches to improve variant detection, molecular diagnosis and outcomes for individuals with DSD.
Silver, Bick and Savona discuss our latest understanding of clonal haematopoiesis (CH), which is an expansion of blood cell populations with shared somatic mutations. They focus on human germline risk variants and on how these are linked to different forms of CH and their associated disease pathologies.
