Ending diagnostic odyssey using clinical whole-exome sequencing (CWES)

Most rare diseases are genetic diseases. Due to the diversity of rare diseases and the high likelihood of patients with rare diseases to be undiagnosed or misdiagnosed, it is not unusual that these patients undergo a long diagnostic odyssey before they receive a definitive diagnosis. This situation...

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Autor principal:	Lam Ching-Wan
Formato:	article
Lenguaje:	EN
Publicado:	De Gruyter 2021
Materias:	clinical whole exome sequencing diagnostic odyssey rare diseases Medical technology R855-855.5
Acceso en línea:	https://doaj.org/article/cce0fdc40a2840719dedc1c39e6c26d5
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spelling	oai:doaj.org-article:cce0fdc40a2840719dedc1c39e6c26d52021-12-05T14:10:52ZEnding diagnostic odyssey using clinical whole-exome sequencing (CWES)2567-94302567-944910.1515/labmed-2021-0127https://doaj.org/article/cce0fdc40a2840719dedc1c39e6c26d52021-12-01T00:00:00Zhttps://doi.org/10.1515/labmed-2021-0127https://doaj.org/toc/2567-9430https://doaj.org/toc/2567-9449Most rare diseases are genetic diseases. Due to the diversity of rare diseases and the high likelihood of patients with rare diseases to be undiagnosed or misdiagnosed, it is not unusual that these patients undergo a long diagnostic odyssey before they receive a definitive diagnosis. This situation presents a clear need to set up a dedicated clinical service to end the diagnostic odyssey of patients with rare diseases.Lam Ching-WanDe Gruyterarticleclinical whole exome sequencingdiagnostic odysseyrare diseasesMedical technologyR855-855.5ENJournal of Laboratory Medicine, Vol 45, Iss 6, Pp 259-266 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	clinical whole exome sequencing diagnostic odyssey rare diseases Medical technology R855-855.5
spellingShingle	clinical whole exome sequencing diagnostic odyssey rare diseases Medical technology R855-855.5 Lam Ching-Wan Ending diagnostic odyssey using clinical whole-exome sequencing (CWES)
description	Most rare diseases are genetic diseases. Due to the diversity of rare diseases and the high likelihood of patients with rare diseases to be undiagnosed or misdiagnosed, it is not unusual that these patients undergo a long diagnostic odyssey before they receive a definitive diagnosis. This situation presents a clear need to set up a dedicated clinical service to end the diagnostic odyssey of patients with rare diseases.
format	article
author	Lam Ching-Wan
author_facet	Lam Ching-Wan
author_sort	Lam Ching-Wan
title	Ending diagnostic odyssey using clinical whole-exome sequencing (CWES)
title_short	Ending diagnostic odyssey using clinical whole-exome sequencing (CWES)
title_full	Ending diagnostic odyssey using clinical whole-exome sequencing (CWES)
title_fullStr	Ending diagnostic odyssey using clinical whole-exome sequencing (CWES)
title_full_unstemmed	Ending diagnostic odyssey using clinical whole-exome sequencing (CWES)
title_sort	ending diagnostic odyssey using clinical whole-exome sequencing (cwes)
publisher	De Gruyter
publishDate	2021
url	https://doaj.org/article/cce0fdc40a2840719dedc1c39e6c26d5
work_keys_str_mv	AT lamchingwan endingdiagnosticodysseyusingclinicalwholeexomesequencingcwes
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Ending diagnostic odyssey using clinical whole-exome sequencing (CWES)

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