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Guojie Zhang discusses a seminal paper by Alfred H. Sturtevant, in which he concluded based on his observations in fruitflies that the mutation rate is an evolving parameter.
In this Journal Club article, María Ávila-Arcos discusses a paper on a medically relevant genetic variant that was found exclusively in Indigenous populations from the Americas. She describes how this work served as inspiration for the inclusion of more diverse populations in the 1000 Genomes Project.
Steiner highlights a study by Protacio et al., which has identified molecular mechanisms underlying the plasticity of meiotic recombination in Schizosaccharomyces pombe.
In this Journal Club, Itay Tirosh highlights a 2011 publication by Gupta et al., which showed that cells undergo frequent stochastic transitions between distinct states in breast cancer cell lines.
Lillian Musila highlights a paper by Quick et al., which reported the use of portable nanopore sequencing for on-site, real-time genomic surveillance during the 2014–2016 Ebola virus epidemic.
Elizabeth Mason recalls a seminal study by Raj et al., who used single-molecule approaches to expose principles governing how genes in a network cooperate to buffer perturbation while maintaining essential cellular functions.
Dimple Notani highlights a 1981 paper by Banerji et al. that describes the discovery of viral enhancer elements and that continues to shape her research today.
In this Journal Club, Ambroise Wonkam describes how whole-exome sequencing of genetically diverse populations of African ancestry can provide insights into both complex and Mendelian disease.
In this Journal Club, Yukinori Okada recalls a 1987 publication that introduced a simple conceptual framework, the shared epitope hypothesis, to explain the genetic risk of rheumatoid arthritis conferred by HLA-DRB1 alleles.
In this Journal Club article, Geoff Faulkner discusses how a ground-breaking study of LINE-1 mobility in human genomes demonstrated not just a role in disease but also molecular details of the mechanisms of retrotransposition.
In this Journal Club article, Yana Bromberg discusses an early application of machine learning for protein structure prediction — a paper that shaped her career. It illustrates the value of ensuring that machine learning approaches are rooted in known biological principles.
Irene Gallego Romero recalls a landmark publication by Rosenberg et al., which reported on the fine-scale structure within and between human populations.
Michael Purugganan reflects on a 100-year-old publication by Nikolai Vavilov, which postulated a new law of genetics from which key evolutionary insights emerged and which guided future molecular genetic investigations.
In this Journal Club article, Fowzan Alkuraya describes how a paper outlining the mathematical foundations of homozygosity mapping provided a route to disease gene identification that still benefits his patients in clinical practice today.
Tom Misteli highlights a 2006 study by Shopland et al., which used relatively simple methods to visualize characteristics of chromosome organization. Their conclusions foreshadowed key concepts in the field: topologically associating domains, compartments and cell-to-cell heterogeneity in genome organization.
Elaine Mardis highlights a publication that served as a fundamental source of inspiration for the field of immunogenomics, setting the stage for neoantigen discovery.
Deborah Charlesworth reflects on a 1970 publication by Haskins et al., a study on guppy Y chromosomes that beautifully demonstrates the use of classical genetics and remains intriguing to this day.
