Literature DB >> 30609405

Response to Whiffin et al.

Naisha Shah1, Ying-Chen Claire Hou1, Hung-Chun Yu1, Rachana Sainger1, C Thomas Caskey2, J Craig Venter3, Amalio Telenti4.   

Abstract

Entities:  

Mesh：

Year:  2019        PMID： 30609405      PMCID： PMC6323415          DOI： 10.1016/j.ajhg.2018.11.011

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  4 in total

1.  Identification of Misclassified ClinVar Variants via Disease Population Prevalence.

Authors:  Naisha Shah; Ying-Chen Claire Hou; Hung-Chun Yu; Rachana Sainger; C Thomas Caskey; J Craig Venter; Amalio Telenti
Journal:  Am J Hum Genet       Date:  2018-04-05       Impact factor: 11.025

Review 2.  Genetic Network Complexity Shapes Background-Dependent Phenotypic Expression.

Authors:  Jing Hou; Jolanda van Leeuwen; Brenda J Andrews; Charles Boone
Journal:  Trends Genet       Date:  2018-06-11       Impact factor: 11.639

3.  Accurate classification of BRCA1 variants with saturation genome editing.

Authors:  Gregory M Findlay; Riza M Daza; Beth Martin; Melissa D Zhang; Anh P Leith; Molly Gasperini; Joseph D Janizek; Xingfan Huang; Lea M Starita; Jay Shendure
Journal:  Nature       Date:  2018-09-12       Impact factor: 49.962

4.  Using high-resolution variant frequencies to empower clinical genome interpretation.

Authors:  Nicola Whiffin; Eric Minikel; Roddy Walsh; Anne H O'Donnell-Luria; Konrad Karczewski; Alexander Y Ing; Paul J R Barton; Birgit Funke; Stuart A Cook; Daniel MacArthur; James S Ware
Journal:  Genet Med       Date:  2017-05-18       Impact factor: 8.822
  4 in total

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