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Comment
. 2016 Dec 15;17(1):257.
doi: 10.1186/s13059-016-1128-4.

Human sex development: targeted technologies to improve diagnosis

Federica Buonocore  1 , John C Achermann  2
Affiliations
Comment

Human sex development: targeted technologies to improve diagnosis

Federica Buonocore et al. Genome Biol. .

Abstract

A new study of disorders of sex development presents an improved targeted next-generation sequencing approach for their diagnosis.Please see related Research article: http://genomebiology.biomedcentral.com/articles/10.1186/s13059-016-1105-y .

Keywords: DSD; Disorders of sex development; Genetic testing; Gonadal dysgenesis; Haloplex; Sex determination.

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Figures

Fig. 1
Fig. 1
a–c Overview of some of the single genes currently associated with disorders/differences of sex development (DSD). Targeted next-generation sequencing (NGS) panels can be valuable for the parallel analysis of many genes simultaneously, especially for forms of 46,XY DSD (b) where the diagnosis is unclear. A study by Eggers and colleagues [5] raises the possibility that variants in genes traditionally associated with central hypogonadism/Kallmann syndrome might also contribute to a 46,XY DSD phenotype
See this image and copyright information in PMC

Comment on

  • Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.
    Eggers S, Sadedin S, van den Bergen JA, Robevska G, Ohnesorg T, Hewitt J, Lambeth L, Bouty A, Knarston IM, Tan TY, Cameron F, Werther G, Hutson J, O'Connell M, Grover SR, Heloury Y, Zacharin M, Bergman P, Kimber C, Brown J, Webb N, Hunter MF, Srinivasan S, Titmuss A, Verge CF, Mowat D, Smith G, Smith J, Ewans L, Shalhoub C, Crock P, Cowell C, Leong GM, Ono M, Lafferty AR, Huynh T, Visser U, Choong CS, McKenzie F, Pachter N, Thompson EM, Couper J, Baxendale A, Gecz J, Wheeler BJ, Jefferies C, MacKenzie K, Hofman P, Carter P, King RI, Krausz C, van Ravenswaaij-Arts CM, Looijenga L, Drop S, Riedl S, Cools M, Dawson A, Juniarto AZ, Khadilkar V, Khadilkar A, Bhatia V, Dũng VC, Atta I, Raza J, Thi Diem Chi N, Hao TK, Harley V, Koopman P, Warne G, Faradz S, Oshlack A, Ayers KL, Sinclair AH. Eggers S, et al. Genome Biol. 2016 Nov 29;17(1):243. doi: 10.1186/s13059-016-1105-y. Genome Biol. 2016. PMID: 27899157 Free PMC article.

References

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    1. Baxter RM, Arboleda VA, Lee H, Barseghyan H, Adam MP, Fechner PY, et al. Exome sequencing for the diagnosis of 46, XY disorders of sex development. J Clin Endocrinol Metab. 2015;100:E333–44. doi: 10.1210/jc.2014-2605. - DOI - PMC - PubMed
    1. Eggers S, Sadedin S, van den Bergen J, Robevska G, Ohnesorg T, Hewitt J, et al. Disorders of sex development: insights from targeted gene sequencing of a large patient cohort. Genome Biol. 2016;17:243. doi: 10.1186/s13059-016-1105-y. - DOI - PMC - PubMed

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