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Systematic documentation and analysis of human...
Journal article

Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach

Abstract

George Patrinos and colleagues report the first implementation of the microattribution approach to systematically document genetic variation associated with a disease, applied here to hemoglobinopathies and thalassemias. They developed a series of connected locus-specific databases that document genotype and phenotype information for genetic variation in 37 globin and erythroid protein genes in individuals with globin disorders, with reciprocal attribution to data contributors.

Authors

Giardine B; Borg J; Higgs DR; Peterson KR; Philipsen S; Maglott D; Singleton BK; Anstee DJ; Basak AN; Clark B

Journal

Nature Genetics, Vol. 43, No. 4, pp. 295–301

Publisher

Springer Nature

Publication Date

February 1, 2011

DOI

10.1038/ng.785

ISSN

1061-4036

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