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In this Comment, Balogun and Olopade highlight opportunities and initiatives for incorporating genomics into cancer management to promote health equity.
A new study in Nature reports a large-scale genome-wide association study of menopause timing, revealing mechanistic details and potential therapeutic opportunities for preserving human fertility.
A new report introduces xPore, a computational method and statistical framework for the analysis of differential RNA modifications from nanopore direct RNA sequencing data.
A study in Current Biology reports the retrieval of genome-scale information for human, wolf (Canis lupus) and bison (Bison bonasus) by shotgun sequencing and genomic analysis of a sediment sample.
Attempts to understand the role of aneuploidy in tumorigenesis have been hampered by conflicting results. Now, two new mouse models described in Genes and Development provide evidence that chromosome instability-induced aneuploidy drives T cell lymphomagenesis.
A recent study has analysed publicly available long-read sequencing data to characterize human-specific variable number tandem repeats at high resolution.
A new method called CIM-seq analyses pairwise co-occurrences of cell types across multiplets to identify cells that are in physical contact with each other in intact tissues.
Combining single-cell RNA sequencing (scRNA-seq) and spatial transcriptomics can localize transcriptionally characterized single cells within their native tissue context. This Review discusses methodologies and tools to integrate scRNA-seq with spatial transcriptomics approaches, and illustrates the types of insights that can be gained.
McLaren and Fellay review our current understanding of the effects of human genetic variation on HIV infection and disease progression and how this knowledge is contributing to preventative and therapeutic approaches.
Genome-wide association studies (GWAS) have revealed important biological insights into complex diseases. The authors review approaches that leverage GWAS to identify opportunities for repurposing existing drugs, including single-loci mapping to drug targets, transcriptome-wide association studies, gene-set association, causal inference by Mendelian randomization and polygenic scoring.
Genome-scale sequencing data have revealed statistical properties of mutagenesis in humans. Statistical analyses that interpret these patterns and incorporate knowledge on DNA replication and repair pathways can provide mechanistic models that shed light on the origin of spontaneous human mutation in the germ line.
