The rare and undiagnosed diseases diagnostic service – application of massively parallel sequencing in a state-wide clinical service

被引：0
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作者：
Gareth Baynam
Nicholas Pachter
Fiona McKenzie
Sharon Townshend
Jennie Slee
Cathy Kiraly-Borri
Anand Vasudevan
Anne Hawkins
Stephanie Broley
Lyn Schofield
Hedwig Verhoef
Caroline E. Walker
Caron Molster
Jenefer M. Blackwell
Sarra Jamieson
Dave Tang
Timo Lassmann
Kym Mina
John Beilby
Mark Davis
Nigel Laing
Lesley Murphy
Tarun Weeramanthri
Hugh Dawkins
Jack Goldblatt
机构：
[1] Government of Western Australia,Genetic Services of Western Australia, Department of Health
[2] University of Western Australia,School of Paediatrics and Child Health
[3] Murdoch University,Institute for Immunology and Infectious Diseases
[4] Government of Western Australia,Office of Population Health Genomics, Public Health Division, Department of Health
[5] University of Western Australia,Telethon Kids Institute
[6] Government of Western Australia,Diagnostic Genomics, PathWest, Department of Health
[7] Curtin University of Technology,Centre for Population Health Research, Curtin Health Innovation Research Institute
[8] University of Western Australia,School of Pathology and Laboratory Medicine
[9] Murdoch University,Centre for Comparative Genomics
[10] Government of Western Australia,Public Health Division, Department of Health
[11] Western Australian Register of Developmental Anomalies,School of Spatial Sciences
[12] Curtin University,Centre for Medical Research, Harry Perkins Institute of Medical Research, QEII Medical Centre
[13] Cooperative Research Centre for Spatial Information,undefined
[14] University of Western Australia,undefined
[15] Rare Voices Australia,undefined
来源：
Orphanet Journal of Rare Diseases | / 11卷
关键词：
Diagnosis; Genomics; Undiagnosed; Diagnostic odyssey; Clinical best practice; Policy; Precision public health;
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