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Defining the most appropriate phenotypes in genome-wide association studies of COVID-19 is challenging, and two new publications demonstrate how case-control definitions critically determine outcomes and downstream clinical utility of findings.
Chromosomes are shaped by an interplay between loop extrusion and compartmentalization. Two new studies demonstrate that bromodomain and extraterminal domain (BET) proteins contribute to both processes, with BRD4 facilitating one process and surprisingly inhibiting the other.
The largest genetic study of educational attainment (EA) so far combines gene mapping and family analyses to show that genetic associations with EA and its health benefits may be mostly indirect. As such, future genetic studies of human social and behavioral traits must include diversity in population, demographic and environmental contexts.
A new study demonstrates that profiles of nascent RNA accurately predict genomic patterns of histone modifications and chromatin state. Consistent with that, active histone marks are revealed to reflect transcription activity, rather than preceding or directing gene output.
The gap between heritability estimates from twin studies and those from genotyping array data has puzzled researchers for over a decade. New research suggests that much of the ‘missing’ heritability is due to rare variants that can only be captured by whole-genome sequencing (WGS) data.
Similar to CTCF, MAZ insulates repressed posterior Hoxa genes from the spreading of anterior active regulatory cues during motoneuron differentiation. This discovery provides new perspectives to understand chromatin organization and insulation.
The function of transposable elements present in mammalian genomes remains an enigma. In this issue, Bodega, Abrignani and colleagues show that LINE1-containing transcripts are key regulators of T cell effector function and exhaustion.
Complex disease definitions often represent descriptive umbrella terms of symptoms rather than mechanistic entities. A new study shows how network-based approaches can help identify the mechanisms that link genes, cells, tissues and organs in cardiovascular diseases.
