Structured Genome-Scale Variant and Clinical Data Reporting for Meta-Analysis in an Era of Genomic Medicine

Creator(s)

Darrell L. Dinwiddie
Carol J. Saunders, Children's Mercy HospitalFollow
Emily G. Farrow, Children's Mercy HospitalFollow
Sarah E. Soden, Children's Mercy HospitalFollow
Neil A. Miller, Children's Mercy HospitalFollow
Stephen F. Kingsmore, Children's Mercy Hospital

Document Type

Article

Publication Date

2013

Identifier

doi: 10.4137/JGE.S10180

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 genotypephenotype 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

Journal Title

Journal of Genomes and Exomes

Volume

2

First Page

31

Last Page

42

Keywords

genome, exome, DNA, diagnosis, disease, treatment, genomic medicine, nucleotide, variant, genetic disease

Recommended Citation

Dinwiddie, D. L., Saunders, C. J., Farrow, E. G., Soden, S. E., Miller, N. A., Kingsmore, S. F. Structured Genome-Scale Variant and Clinical Data Reporting for Meta-Analysis in an Era of Genomic Medicine Journal of Genomes and Exomes 2, 31-42 (2013).