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| http://dx.doi.org/10.1136/esmoopen-2020-000696 | DOI Listing |
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High clinical utility of long-read sequencing for precise diagnosis of congenital adrenal hyperplasia in 322 probands.
Hum Genomics
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Department of Endocrine and Metabolic Diseases, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing, China.
Background: The molecular genetic diagnosis of congenital adrenal hyperplasia (CAH) is very challenging due to the high homology between the CYP21A2 gene and its pseudogene CYP21A1P.
Methodology: This study aims to assess the clinical efficacy of targeted long-read sequencing (T-LRS) by comparing it with a control method based on the combined assay (NGS, Multiplex ligation-dependent probe amplification and Sanger sequencing) and to introduce T-LRS as a first-tier diagnostic test for suspected CAH patients to improve the precise diagnosis of CAH.
Results: A large cohort of 562 participants including 322 probands and 240 family members was enrolled for the perspective (96 probands) and prospective study (226 probands).
Exome sequencing reveals a rare damaging variant in GRIN2C in familial late-onset Alzheimer's disease.
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Department of Neuroscience "Rita Levi Montalcini", University of Turin, Via Cherasco 15, Turin, 10126, Italy.
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View Article and Find Full Text PDFA mixed-method study on physicians' perceptions of pay for performance: impact on professionalism, morality and work-life balance.
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Department of Biostatistics, Ankara University, Faculty of Medicine, Morfoloji Binasi, Biyoistatistik AD, 06230, Ankara, Altindag, Turkey.
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Department of General Surgery, The Second Affiliated Hospital, Jiangxi Medical College, Nanchang University, No.1, Minde Road, Nanchang, 330006, Jiangxi, China.
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Virtual primary care for people living with dementia in Canada: cross-sectional surveys of patients, care partners, and family physicians.
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Department of Family Medicine, Faculty of Medicine, McGill University, 5858 Ch. de la Côte des Neiges, Montreal, QC, H3S 1Z1, Canada.
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