Art

J-GLOBAL ID：201702224362066292   Reference number：17A0285564

Developing WGS as a First Line Diagnostic Test for Patients with Mendelian Disorders

Mendel遺伝病の患者に対する最初の系統診断検査としてのWGS

Author (29)： COWLEY Mark J (Garvan Inst. of Medical Res., AUS) ,  COWLEY Mark J (Univ. New South Wales, NSW, AUS) ,  EWANS Lisa J (Garvan Inst. of Medical Res., AUS) ,  EWANS Lisa J (Univ. New South Wales, NSW, AUS) ,  MALLAWAARACHCHI Amali (Garvan Inst. of Medical Res., AUS) ,  MALLAWAARACHCHI Amali (St Vincent’s Hospital, NSW, AUS) ,  MINOCHE Andre (Garvan Inst. of Medical Res., AUS) ,  PINESE Mark (Garvan Inst. of Medical Res., AUS) ,  KUMAR Kishore R (Garvan Inst. of Medical Res., AUS) ,  KUMAR Kishore R (Kolling Inst. of Medical Res., NSW, AUS) ,  MILLER David (Garvan Inst. of Medical Res., AUS) ,  GAYEVSKIY Velimir (Garvan Inst. of Medical Res., AUS) ,  HORT Yvonne (Garvan Inst. of Medical Res., AUS) ,  ZHU Ying (Royal North Shore GOLD Serv., NSW, AUS) ,  HORVAT Clare (Victor Chang Cardiac Res. Inst., NSW, AUS) ,  FATKIN Diane (Victor Chang Cardiac Res. Inst., NSW, AUS) ,  SHINE John (Garvan Inst. of Medical Res., AUS) ,  FURLONG Tim (St Vincent’s Hospital, NSW, AUS) ,  CHRISTODOULOU John (Children’s Hospital, NSW, AUS) ,  ZANKL Andreas (Garvan Inst. of Medical Res., AUS) ,  ZANKL Andreas (Children’s Hospital, NSW, AUS) ,  SUE Carolyn E (Kolling Inst. of Medical Res., NSW, AUS) ,  GROZA Tudor (Garvan Inst. of Medical Res., AUS) ,  BUCKLEY Michael F (Prince of Wales Hospital, NSW, AUS) ,  ROSCIOLI Tony (Garvan Inst. of Medical Res., AUS) ,  ROSCIOLI Tony (Univ. New South Wales, NSW, AUS) ,  ROSCIOLI Tony (Sydney Children’s Hospital, NSW, AUS) ,  DINGER Marcel E (Garvan Inst. of Medical Res., AUS) ,  DINGER Marcel E (Univ. New South Wales, NSW, AUS)
Material： 日本人類遺伝学会大会プログラム・抄録集  (日本人類遺伝学会大会)
Volume： 61st(Web)  Page： ROMBUNNO.Wed(4)-SFS19-1 (WEB ONLY)  Publication year： 2016 
JST Material Number： L1204A  Document type： Proceedings
Article type： 短報  Country of issue： Japan (JPN)  Language： ENGLISH (EN)

Thesaurus term： genome ,...
Semi thesaurus term： *Mendelian disorder ,...

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JST classification (3)： Anthropology  (EA01070K) ,  Genetic variation  (EC01030Y) ,  Diagnostics of congenital diseases, deformities.  (GD03020G)

Terms in the title (4)： Mendel遺伝病 ,  患者 ,  系統 ,  診断検査