Open AccessLessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria’s Undiagnosed Diseases Program
Author(s) -
Thomas Cloney,
Lyndon Gallacher,
Lynn Pais,
Natalie B Tan,
Alison Yeung,
Zornitza Stark,
Natasha J. Brown,
George McGillivray,
Martin B. Delatycki,
Michelle G. de Silva,
Lilian Downie,
Chloe Stutterd,
Justine Elliott,
Alison G. Compton,
Alysia Kern Lovgren,
Ralph Oertel,
David Francis,
Katrina M. Bell,
Simon Sadedin,
Sze Chern Lim,
Guy Helman,
Cas Simons,
Daniel G. MacArthur,
David R. Thorburn,
Anne O’Donnell-Luria,
John Christodoulou,
Susan White,
Tiong Yang Tan
Publication year - 2021
Publication title -
journal of medical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.439
H-Index - 170
eISSN - 1468-6244
pISSN - 0022-2593
DOI - 10.1136/jmedgenet-2021-107902
Subject(s) - exome sequencing , exome , medical genetics , genetics , disease , computational biology , biology , medicine , bioinformatics , phenotype , gene , pathology
Clinical exome sequencing typically achieves diagnostic yields of 30%-57.5% in individuals with monogenic rare diseases. Undiagnosed diseases programmes implement strategies to improve diagnostic outcomes for these individuals.