Low-Pass Whole-Genome Sequencing in Clinical Cytogenetics: A Validated Approach
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AbstractPurpose: Chromosomal microarray analysis is the gold standard for copy-number variant (CNV) detection in prenatal and postnatal diagnosis. We aimed to determine whether next-generation sequencing (NGS) technology could be an alternative method for CNV detection in routine clinical application.Methods: Genome-wide CNV analysis (≥50 kb) was performed on a multicenter group of 570 patients using a low-coverage whole-genome sequencing pipeline. These samples were referred for chromosomal analysis; CNVs (i.e., pathogenic CNVs, pCNVs) were classified according to the American College of Medical Genetics and Genomics guidelines.Results: Overall, a total of 198 abortuses, 37 stillbirths, 149 prenatal, and 186 postnatal samples were tested. Our approach yielded results in 549 samples (96.3%) and the other 21 samples were failed because of the poor DNA quality due to fetal demise. In addition to 119 subjects with aneuploidies, 103 pCNVs (74 losses and 29 gains) were identified in 82 samples, giving diagnostic yields of 53.2% (95% confidence interval: 45.8, 60.5), 14.7% (5.0, 31.1), 28.5% (21.1, 36.6), and 30.1% (23.6, 37.3) in each group, respectively. Mosaicism was observed at a level as low as 25%.Conclusions: Patients with chromosomal diseases or microdeletion/ microduplication syndromes were diagnosed using a high-resolution genome-wide method. Our study revealed the potential of NGS to facilitate genetic diagnoses that were not evident in the prenatal and postnatal groups.
All Author(s) ListDong Z, Chen F, Wang HL, Jiang H, Choy KW
Name of Conference2016 American Society of Human Genetics Annual Meeting
Start Date of Conference18/10/2016
End Date of Conference22/10/2016
Place of ConferenceVancouver
Country/Region of ConferenceCanada
LanguagesEnglish-United States

Last updated on 2018-22-01 at 00:26