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Volume 54 Issue 3, March 2022

Matching facial phenotypes of rare disorders

The diagnostic odyssey can last indefinitely when the gene that underlies a patient’s disorder remains unknown. The ability to identify undiagnosed patients who ‘match’ based on facial features can be a crucial precursor to identifying the underlying disease-causing genes. GestaltMatcher can establish these matches, igniting the necessary process of delineating new disease entities and diagnoses.

See Hsieh et al.

Image: Jean-Tori Pantel. Cover Design: Valentina Monaco.

Volume 54 Issue 3

Editorial

  • The genetics community has a particularly important part to play in accelerating rare disease research and contributing to improving diagnosis and treatment. Innovations in sequencing technology and machine learning approaches have positively affected diagnostic success, but more coordinated efforts are needed to move towards effective therapies or even cures for these important, and sometimes overlooked, class of diseases.

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World View

  • Would genetics research be a priority for Rwanda while the country was rebuilding just after the 1994 genocide against Tutsi? This was a question that I needed to consider. Sometimes, it is very hard to make the best choice for your career in a new scientific discipline when you have no role models and the only way forward is to start from scratch. Later, however, you can look back on what you have accomplished with surprise, and pride, when you see all your efforts paying off. Here I tell the story of my journey in genetics research, from rebuilding a country after trauma to facing our current COVID-19 pandemic challenges.

    • Léon Mutesa
    World View
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Comment

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News & Views

  • 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.

    • Karen Adelman
    News & Views
  • 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.

    • Alexander I. Young
    News & Views
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