Literature DB >> 24535247

Disease genetics: all together now for variant interpretation.

Darren J Burgess.   

Abstract

Mesh：

Year:  2014        PMID： 24535247     DOI： 10.1038/nrg3702

Source DB:  PubMed          Journal:  Nat Rev Genet        ISSN： 1471-0056            Impact factor:   53.242


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  1 in total

1.  A general framework for estimating the relative pathogenicity of human genetic variants.

Authors:  Martin Kircher; Daniela M Witten; Preti Jain; Brian J O'Roak; Gregory M Cooper; Jay Shendure
Journal:  Nat Genet       Date:  2014-02-02       Impact factor: 38.330
  1 in total
  1 in total

1.  On human disease-causing amino acid variants: statistical study of sequence and structural patterns.

Authors:  Marharyta Petukh; Tugba G Kucukkal; Emil Alexov
Journal:  Hum Mutat       Date:  2015-04-06       Impact factor: 4.878
  1 in total

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