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Archive by tag | copy number variation

27 Apr 2017 | 15:35 BST

From the archives (2004): Large-scale structural variation in the human genome

Posted by Brooke LaFlamme | Categories: Genomics, History of genetics

From the archives (2004): Large-scale structural variation in the human genome

During the past 25 years, Nature Genetics has been lucky to publish many exciting papers, more than a few of which can be described as “landmark” papers—publications that have had a dramatic and long-lasting impact on a field. In 2004, the Journal published such a study by Stephen Scherer, Charles Lee and colleagues (Iafrate et al.) in which they reported 255 loci across the human genome containing large structural variants.  Read more

Tags:

  • behind the scenes
  • copy number variation
  • human genetics

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15 Sep 2014 | 09:00 BST

Pinpointing genes underlying developmental delay

Posted by Brooke LaFlamme | Categories: Genetic association, Genomics

Pinpointing genes underlying developmental delay

A paper published online this week at Nature Genetics uses an innovative method to find new genes that contribute to neurocognitive disorders, such as autism.  Read more

Tags:

  • autism
  • behind the scenes
  • cognitive disorders
  • copy number variation
  • developmental delay
  • Evan Eichler
  • intellectual disability
  • mental health
  • neurodevelopmental disorders
  • neuropsychiatric disorders

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