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In this Review, the authors discuss computational methods for interpreting the molecular and clinical effects of genetic variants. They focus on methods leveraging machine learning, including those that characterize the effects on wider molecular networks.
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.
A recent study has analysed publicly available long-read sequencing data to characterize human-specific variable number tandem repeats at high resolution.
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.
A new report introduces xPore, a computational method and statistical framework for the analysis of differential RNA modifications from nanopore direct RNA sequencing data.
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.
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.
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.
In this Comment, Balogun and Olopade highlight opportunities and initiatives for incorporating genomics into cancer management to promote health equity.
Synthetic biology has enabled the development of engineered cells that can serve as ex vivo or in vivo diagnostic tools or therapeutic delivery systems. This Review discusses preclinical and clinical applications of bacterial and mammalian theranostic cells as well as their underlying biological designs and remaining hurdles to their successful clinical application.
In this Review, Gelernter and Polimanti discuss how recent large-scale studies have provided insights into the genetics and biology of substance use and abuse. By considering a range of addictive substances (both legal and illegal), they describe the genetic commonalities and distinctions among use and dependency phenotypes for these substances.
A study in the American Journal of Human Genetics shows that using the GRCh37 versus GRCh38 version of the human reference genome makes a meaningful difference to the calling of human genetic variants, with implications for research-based and clinical-based human sequencing studies.
The RNA Atlas is reported in Nature Biotechnology. It provides a global view of human RNAs, including thousands of newly characterized non-coding RNAs.
In a paper in Nature, Hua et al. report the Micro-Capture-C method for near-base-pair resolution characterization of chromosomal interactions in mammalian cells.
A study in Cell describes the discovery of a conserved set of small non-coding RNAs that are glycosylated in diverse cell types. These glycoRNAs are found at the surface of cells, where they can participate in extracellular interactions.
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-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.
