Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

Eggers, Stefanie; Sadedin, Simon; Van Den Bergen, Jocelyn A; Robevska, Gorjana; Ohnesorg, Thomas; Hewitt, Jacqueline; Lambeth, Luke; Bouty, Aurore; Knarston, Ingrid M; Tan, Tiong Yang; Cameron, Fergus; Werther, George; Hutson, John; O'Connell, Michele; Grover, Sonia R; Heloury, Yves; Zacharin, Margaret; Bergman, Philip; Kimber, Chris; Brown, Justin; Webb, Nathalie; Hunter, Matthew F; Srinivasan, Shubha; Titmuss, Angela; Verge, Charles F; Mowat, David; Smith, Grahame; Smith, Janine; Ewans, Lisa; Shalhoub, Carolyn; Crock, Patricia; Cowell, Chris; Leong, Gary M; Ono, Makato; Lafferty, Antony R; Huynh, Tony; Visser, Uma; Choong, Catherine S; Mckenzie, Fiona; Pachter, Nicholas; Thompson, Elizabeth M; Couper, Jennifer; Baxendale, Anne; Gecz, Jozef; Wheeler, Benjamin J; Jefferies, Craig; Mackenzie, Karen; Hofman, Paul; Carter, Philippa; King, Richard I; Krausz, Csilla; van Ravenswaaij-Arts, Conny M A; Looijenga, Leendert; Drop, Sten; Riedl, Stefan; Cools, Martine; Dawson, Angelika; Juniarto, Achmad Zulfa; Khadilkar, Vaman; Khadilkar, Anuradha; Bhatia, Vijayalakshmi; Dũng, Vũ Chí; Atta, Irum; Raza, Jamal; Thi Diem Chi, Nguyen; Hao, Tran Kiem; Harley, Vincent; Koopman, Peter; Warne, Garry; Faradz, Sultana; Oshlack, Alicia; Ayers, Katie L; Sinclair, Andrew H

doi:10.1186/s13059-016-1105-y

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, Stefanie; Sadedin, Simon; van den Bergen, Jocelyn A; Robevska, Gorjana; Ohnesorg, Thomas; Hewitt, Jacqueline; Lambeth, Luke; Bouty, Aurore; Knarston, Ingrid M; Tan, Tiong Yang; Cameron, Fergus; Werther, George; Hutson, John; O'Connell, Michele; Grover, Sonia R; Heloury, Yves; Zacharin, Margaret; Bergman, Philip; Kimber, Chris; Brown, Justin; Webb, Nathalie; Hunter, Matthew F; Srinivasan, Shubha; Titmuss, Angela; Verge, Charles F; Mowat, David; Smith, Grahame; Smith, Janine; Ewans, Lisa; Shalhoub, Carolyn; Crock, Patricia; Cowell, Chris; Leong, Gary M; Ono, Makato; Lafferty, Antony R; Huynh, Tony; Visser, Uma; Choong, Catherine S; McKenzie, Fiona; Pachter, Nicholas; Thompson, Elizabeth M; Couper, Jennifer; Baxendale, Anne; Gecz, Jozef; Wheeler, Benjamin J; Jefferies, Craig; MacKenzie, Karen; Hofman, Paul; Carter, Philippa; King, Richard I; Krausz, Csilla; van Ravenswaaij-Arts, Conny M A; Looijenga, Leendert; Drop, Sten; Riedl, Stefan; Cools, Martine; Dawson, Angelika; Juniarto, Achmad Zulfa; Khadilkar, Vaman; Khadilkar, Anuradha; Bhatia, Vijayalakshmi; Dũng, Vũ Chí; Atta, Irum; Raza, Jamal; Thi Diem Chi, Nguyen; Hao, Tran Kiem; Harley, Vincent; Koopman, Peter; Warne, Garry; Faradz, Sultana; Oshlack, Alicia; Ayers, Katie L; Sinclair, Andrew H. - In: GENOME BIOLOGY. - ISSN 1474-760X. - STAMPA. - 17:(2016), pp. 243-243. [10.1186/s13059-016-1105-y]