Disorders of sex development (DSD) are congenital conditions in which chromosomal, gonadal, or phenotypic sex is atypical. Clinical management of DSD is often difficult and currently only 13% of patients receive an accurate clinical genetic diagnosis. To address this we have developed a massively parallel sequencing targeted DSD gene panel which allows us to sequence all 64 known diagnostic DSD genes and candidate genes simultaneously.
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort / Eggers, S., Sadedin, S., van den Bergen, J.A., Robevska, G., Ohnesorg, T., Hewitt, J., Lambeth, L., Bouty, A., Knarston, I.M., Tan, T.Y., Cameron, F., Werther, G., Hutson, J., O'Connell, M., Grover, S.R., Heloury, Y., Zacharin, M., Bergman, P., Kimber, C., Brown, J., et al.. - In: GENOME BIOLOGY. - ISSN 1474-760X. - STAMPA. - 17:(2016), pp. 243-243. [10.1186/s13059-016-1105-y]
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort
Krausz, Csilla;
2016
Abstract
Disorders of sex development (DSD) are congenital conditions in which chromosomal, gonadal, or phenotypic sex is atypical. Clinical management of DSD is often difficult and currently only 13% of patients receive an accurate clinical genetic diagnosis. To address this we have developed a massively parallel sequencing targeted DSD gene panel which allows us to sequence all 64 known diagnostic DSD genes and candidate genes simultaneously.
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