Title |
Exome sequencing in neonates: diagnostic rates, characteristics, and time to diagnosis
|
---|---|
Published in |
Genetics in Medicine, March 2018
|
DOI | 10.1038/gim.2018.11 |
Pubmed ID | |
Authors |
Zöe Powis, Kelly D Farwell Hagman, Virginia Speare, Taylor Cain, Kirsten Blanco, Layla S Mowlavi, Emily M Mayerhofer, David Tilstra, Timothy Vedder, Jesse M Hunter, Marilyn Tsang, Lina Gonzalez, Gerald Vockley, Sha Tang |
Abstract |
PurposeNeonatal patients are particularly appropriate for utilization of diagnostic exome sequencing (DES), as many Mendelian diseases are known to present in this period of life but often with complex, heterogeneous features. We attempted to determine the diagnostic rates and features of neonatal patients undergoing DES.MethodsThe clinical histories and results of 66 neonatal patients undergoing DES were retrospectively reviewed.ResultsClinical DES identified potentially relevant findings in 25 patients (37.9%). The majority of patients had structural anomalies such as birth defects, dysmorphic features, cardiac, craniofacial, and skeletal defects. The average time for clinical rapid testing was 8 days.ConclusionOur observations demonstrate the utility of family-based exome sequencing in neonatal patients, including familial cosegregation analysis and comprehensive medical review.GENETICS in MEDICINE advance online publication, 22 March 2018; doi:10.1038/gim.2018.11. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 5 | 71% |
United Kingdom | 2 | 29% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 4 | 57% |
Scientists | 2 | 29% |
Science communicators (journalists, bloggers, editors) | 1 | 14% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 34 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 8 | 24% |
Researcher | 5 | 15% |
Student > Postgraduate | 4 | 12% |
Student > Master | 3 | 9% |
Student > Bachelor | 2 | 6% |
Other | 9 | 26% |
Unknown | 3 | 9% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 13 | 38% |
Medicine and Dentistry | 8 | 24% |
Agricultural and Biological Sciences | 5 | 15% |
Psychology | 1 | 3% |
Neuroscience | 1 | 3% |
Other | 1 | 3% |
Unknown | 5 | 15% |