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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.
Cisca Wijmenga reflects on a seminal publication by Houwen et al. that set the stage for genome-wide association studies and inspired her to dedicate her lab to complex trait genetics.
Qifa Zhang describes how a 2008 publication in Nature Biotechnology on transgenic purple tomatoes inspired him to tackle food security by improving the nutrient and culinary value of black rice.
Neil Gemmell recalls the pioneering work published in 1968 by Britten and Kohne, which ignited in him an enduring fascination as to why eukaryotic genomes contain substantial fractions of repetitive DNA.
