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Large-scale genetic perturbation screens have been central to many biological discoveries. This Review outlines the recent advances in the quantification of various perturbations across large numbers of single cells simultaneously and describes the use of genetic perturbation screens to infer functional interactions between genes and phenotypes.
Preserving spatial information in gene expression analyses is key for interpreting the single-cell tissue context (and even subcellular environments) of RNAs to achieve a more complete understanding of the underlying physiology. This Innovation article describes the emerging technologies of and biological insights from spatially resolved transcriptomics technologies, and how they set the stage for comprehensive investigations using complementary omic approaches.
Mendelian conditions, which are caused by dysfunction of a single gene, illustrate how the availability of the human genome sequence and tools for interrogating individual genomes can provide insights into disease. In this Review, cystic fibrosis is presented as an example of how genetics can continuously inform clinical research and practice.
Relatedness has traditionally been defined using pedigree-based measures, but these have serious deficiencies. With genome-wide data, SNP-based measures can now be used to directly measure genome similarity, a more useful concept than relatedness. This Review outlines ways to evaluate measures of genome similarity.
The RNA World concept is the idea that billions of years ago — before current life based on DNA, RNA and proteins — the primary living substance was RNA or something chemically similar. This Review highlights the challenges and solutions of this point of view, particularly for the synthesis and replication of RNA, and how various types of molecular cooperation probably had important roles.
Analyses of post-transcriptional gene regulation and the protein factors involved have been substantially driven forward by technological advances such as next-generation sequencing and modern protein mass spectrometry. This Analysis provides a census of 1,542 manually curated RNA-binding proteins, for which the authors have investigated interactions with different classes of RNA, evolutionary conservation, abundance and tissue-specific expression.