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Archive by tag | human genetics

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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03 Nov 2014 | 18:57 GMT

The genetic syntax of febrile seizures

Posted by Brooke LaFlamme | Categories: Linkage

The genetic syntax of febrile seizures

The genetics of seizure disorders, including epilepsy, has recently come into the spotlight (see the Nature Outlook on epilepsy). Epilepsy is a complex disease with many different subtypes, both sporadic and familial. While epilepsy is one of the most common neurological disorders, and it has been studied for a very long time, the underlying mechanisms of seizure disorders remain largely elusive. Identifying the genetic causes of different subtypes of the disorder can help to illuminate the gene networks involved and lead to a deeper understanding overall. Importantly, the genetic tools now exist to identify causal mutations for the many different subtypes of seizure disorders.  Read more

Tags:

  • behind the scenes
  • epilepsy
  • exome sequencing
  • febrile seizures
  • Holger Lerche
  • human genetics
  • STX1B
  • zebrafish

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06 Oct 2014 | 14:38 BST

Discovery of a gene for heart and gut rhythms

Posted by Brooke LaFlamme | Categories: Linkage, Rare diseases

Discovery of a gene for heart and gut rhythms

What do your heart and gut have in common? More than you might think. A new study by Gregor Andelfinger and colleagues has found that a single gene, SGOL1 (Shugoshin-like 1), is required for the normal rhythms of both the heart and intestine.  Read more

Tags:

  • atrial dysrhythmia
  • behind the scenes
  • Care for Rare
  • Chronic intestinal pseudo-obstruction
  • FORGE Canada Consortium
  • Gregor Adelfinger
  • human genetics
  • intestinal dysrhythmia
  • pacemaker cells
  • SGOL1
  • Sick Sinus Syndrome

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