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Volume 53 Issue 6, June 2021

Volume 53 Issue 6

Genomes of Icelanders

A section of an Icelandic traditional wool sweater (lopapeysa), with a pattern akin to a double-helix shape near the yoke representing the genetic material of individuals analyzed in this study. The analysis of long-read sequencing of 3,622 Icelanders led to the discovery of a number of associations of structural variants (SVs) with phenotypes, thus providing insights into the roles of SVs in human diseases and other traits. The lopapeysa in the photograph was handknitted by a member of the Handknitting Association of Iceland.

See Beyter et al.

Image: Jon Einarsson Gustafsson. Cover Design: Valentina Monaco.

News & Views

  • News & Views |

    Neurological, cognitive and genetic sciences share a longstanding interest in studying the relationship between the shape of the human skull and of the brain. However, the downstream biological genetic underpinnings of such interactions, if they exist, remain largely unknown. A new genetic study now reports on a set of genes that may be involved in substantially shaping the profile of our face and the physical shape of our brain, but not so much its capabilities.

    • Martijn P. van den Heuvel
    • Danielle Posthuma
  • News & Views |

    Single-cell and bulk transcriptomics of adult human microglia from a population of individuals reveals activated states across several brain disorders and maps Alzheimer’s disease variants to microglia-enriched genes.

    • Kevin W. Kelley
    • Sergiu P. Pașca
  • News & Views |

    Genome editing with CRISPR–Cas9 is beginning to be used clinically; promising results to date inspire hope for broad medical impact and mindfulness about safety. A new study shows that when Cas9 cuts its target, a fraction of the time, the target chromosome experiences a breakage process known as chromothripsis, thus prompting efforts to understand the potential negative consequences of this phenomenon and ways to mitigate them.

    • Fyodor D. Urnov





  • Analysis | | Open Access

    Analysis of RNA-seq datasets from seven organs across seven species generates an alternative splicing (AS) atlas and shows that AS events provide functional gene diversification through generation of tissue- and time-specific transcript isoforms.

    • Pavel V. Mazin
    • Philipp Khaitovich
    • Henrik Kaessmann

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