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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN)

Fig. 2

Example of filtering of genomic variants obtained by whole exome sequencing to identify a pathogenic variant in a growth retarded patientn. By applying different filter parameters like variant frequencies, pathogenicity and mode of inheritance, the number of genomic variants can be reduced and the disease-causing variant can be identified (numbers of variants are shown on the y axis)

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172