Literature DB >> 31397982

Efficient variant data preparation for Human Mutation manuscripts: Variants and phenotypes.

Johan T den Dunnen.   

Abstract

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Year:  2019        PMID： 31397982     DOI： 10.1002/humu.23830

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  3 in total

1.  Verifying nomenclature of DNA variants in submitted manuscripts: Guidance for journals.

Authors:  Jan Higgins; Raymond Dalgleish; Johan T den Dunnen; Greg Barsh; Peter J Freeman; David N Cooper; Sara Cullinan; Kay E Davies; Huw Dorkins; Li Gong; Issei Imoto; Teri E Klein; Bruce Korf; Adya Misra; Mark H Paalman; Sarah Ratzel; Juergen K V Reichardt; Heidi L Rehm; Katsushi Tokunaga; Karen E Weck; Garry R Cutting
Journal:  Hum Mutat       Date:  2020-12-10       Impact factor: 4.878

2.  Variation in nomenclature of somatic variants for selection of oncological therapies: Can we reach a consensus soon?

Authors:  Cleo Keppens; Véronique Tack; Kelly Dufraing; Etienne Rouleau; Marjolijn J L Ligtenberg; Ed Schuuring; Elisabeth M C Dequeker
Journal:  Hum Mutat       Date:  2019-10-14       Impact factor: 4.878

3.  The LOVD3 platform: efficient genome-wide sharing of genetic variants.

Authors:  Ivo F A C Fokkema; Mark Kroon; Julia A López Hernández; Daan Asscheman; Ivar Lugtenburg; Jerry Hoogenboom; Johan T den Dunnen
Journal:  Eur J Hum Genet       Date:  2021-09-15       Impact factor: 5.351
  3 in total

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