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Posted Mon, Apr, 08,2013
Published today in Journal of Genomes and Exomes is a new opinion article by Darrell L. Dinwiddie, Carol J. Saunders, Emily G. Farrow, Sarah E. Soden, Neil A. Miller and Stephen F. Kingsmore. Read more about this paper below:
Title
Structured Genome-Scale Variant and Clinical Data Reporting for Meta-Analysis in an Era of Genomic Medicine
Abstract
The Journal of Genomes and Exomes is a new, peer-reviewed, open-access, online publication whose scope comprises reporting of high quality genome, exome, and gene panel sequences with attendant, detailed phenotypes. The intent of this journal is to facilitate comparisons between genome, exome and gene panel sequencing studies in order to assist significance testing of the genotype-phenotype associations, particularly those in uncommon genetic diseases. While there is yet to be a consensus regarding these classifications, the definition of an empiric set is helpful in understanding error models. Herein we have suggested structured templates for submissions and the rationale for the data fields in these templates, as well as examples. The editorial board of the Journal of Genomes and Exomes is keen to receive feedback regarding these structured templates and welcomes submissions.
Click here to learn more about the article, download it and comment
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Interview with Professor Jamie DaviesContributing an invited review was a pleasant experience with Libertas. We are grateful for such a solid platform and their belief in young talented scientists and their research. Overall, it was a wonderful and simplified process from submission to publication of the article with regular updates at each step from various staff members. Each person was extremely efficient and very professional during manuscript processing.
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