2 Matching Annotations
  1. Jul 2018
    1. On 2014 Apr 04, Kevin Mitchell commented:

      This paper represents a major step forward in our understanding of the genetic architecture of schizophrenia and the identification of rare mutations that can cause it. Regrettably, the use of the term "polygenic burden" in the title is quite misleading. The term polygenic implies the causal involvement of multiple genetic variants in affected individuals (as here: http://ghr.nlm.nih.gov/glossary=polygenic). Using it to refer to the implication in the etiology of a disorder of many different genes across the population bastardises the term and renders it ambiguous at best and actively misleading at worst. What the authors find is an excess of rare, disruptive mutations, particularly in several specific gene sets, across a sample of cases compared to a sample of controls. This is consistent with a high level of genetic heterogeneity across that sample, but does not imply that disease is caused by multiple variants per individual.


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  2. Feb 2018
    1. On 2014 Apr 04, Kevin Mitchell commented:

      This paper represents a major step forward in our understanding of the genetic architecture of schizophrenia and the identification of rare mutations that can cause it. Regrettably, the use of the term "polygenic burden" in the title is quite misleading. The term polygenic implies the causal involvement of multiple genetic variants in affected individuals (as here: http://ghr.nlm.nih.gov/glossary=polygenic). Using it to refer to the implication in the etiology of a disorder of many different genes across the population bastardises the term and renders it ambiguous at best and actively misleading at worst. What the authors find is an excess of rare, disruptive mutations, particularly in several specific gene sets, across a sample of cases compared to a sample of controls. This is consistent with a high level of genetic heterogeneity across that sample, but does not imply that disease is caused by multiple variants per individual.


      This comment, imported by Hypothesis from PubMed Commons, is licensed under CC BY.