Secondary findings from whole-exome sequencing data in families with familial combined hyperlipidemia (FCHL)

Abstract Background During the interpretation of genome sequencing data, some types of secondary findings are identified that are located in genes that do not appear to be related to the causes of the primary disease. Although these are not the primary targets for evaluation, they have a high risk f...

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Autores principales:	Mana Zakeri, Mohammad Sadegh Safaiee, Forough Taheri, Eskandar Taghizadeh, Gordon A. Ferns, Majid Ghayour Mobarhan, Alireza Pasdar
Formato:	article
Lenguaje:	EN
Publicado:	SpringerOpen 2021
Materias:	Familial combined hyperlipidemia FCHL Secondary findings WES Medicine (General) R5-920 Genetics QH426-470
Acceso en línea:	https://doaj.org/article/afaf98bd8d0e48ea855a03ff061ae77b
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spelling	oai:doaj.org-article:afaf98bd8d0e48ea855a03ff061ae77b2021-11-07T12:06:08ZSecondary findings from whole-exome sequencing data in families with familial combined hyperlipidemia (FCHL)10.1186/s43042-021-00195-42090-2441https://doaj.org/article/afaf98bd8d0e48ea855a03ff061ae77b2021-11-01T00:00:00Zhttps://doi.org/10.1186/s43042-021-00195-4https://doaj.org/toc/2090-2441Abstract Background During the interpretation of genome sequencing data, some types of secondary findings are identified that are located in genes that do not appear to be related to the causes of the primary disease. Although these are not the primary targets for evaluation, they have a high risk for some diseases different from the primary disease. Therefore, they can be vital for preventing and intervention from such disease. Results Here, we analyzed secondary findings obtained from WES in 6 families with FCHL disease who had an autosomal-dominant pattern based on their pedigrees. These finding are found in CDKAL1, ITGA2 , FAM111A , WNK4 , PTGIS , SCN10 , TBX20, DCHS1 , ANK2 and ABCA1 genes. Conclusions Secondary findings are very important and must be considered different variants from sequencing results in a diagnostic setting. Although we have considered these variants as secondary findings, some of them may be related to the primary disease.Mana ZakeriMohammad Sadegh SafaieeForough TaheriEskandar TaghizadehGordon A. FernsMajid Ghayour MobarhanAlireza PasdarSpringerOpenarticleFamilial combined hyperlipidemiaFCHLSecondary findingsWESMedicine (General)R5-920GeneticsQH426-470ENEgyptian Journal of Medical Human Genetics, Vol 22, Iss 1, Pp 1-5 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Familial combined hyperlipidemia FCHL Secondary findings WES Medicine (General) R5-920 Genetics QH426-470
spellingShingle	Familial combined hyperlipidemia FCHL Secondary findings WES Medicine (General) R5-920 Genetics QH426-470 Mana Zakeri Mohammad Sadegh Safaiee Forough Taheri Eskandar Taghizadeh Gordon A. Ferns Majid Ghayour Mobarhan Alireza Pasdar Secondary findings from whole-exome sequencing data in families with familial combined hyperlipidemia (FCHL)
description	Abstract Background During the interpretation of genome sequencing data, some types of secondary findings are identified that are located in genes that do not appear to be related to the causes of the primary disease. Although these are not the primary targets for evaluation, they have a high risk for some diseases different from the primary disease. Therefore, they can be vital for preventing and intervention from such disease. Results Here, we analyzed secondary findings obtained from WES in 6 families with FCHL disease who had an autosomal-dominant pattern based on their pedigrees. These finding are found in CDKAL1, ITGA2 , FAM111A , WNK4 , PTGIS , SCN10 , TBX20, DCHS1 , ANK2 and ABCA1 genes. Conclusions Secondary findings are very important and must be considered different variants from sequencing results in a diagnostic setting. Although we have considered these variants as secondary findings, some of them may be related to the primary disease.
format	article
author	Mana Zakeri Mohammad Sadegh Safaiee Forough Taheri Eskandar Taghizadeh Gordon A. Ferns Majid Ghayour Mobarhan Alireza Pasdar
author_facet	Mana Zakeri Mohammad Sadegh Safaiee Forough Taheri Eskandar Taghizadeh Gordon A. Ferns Majid Ghayour Mobarhan Alireza Pasdar
author_sort	Mana Zakeri
title	Secondary findings from whole-exome sequencing data in families with familial combined hyperlipidemia (FCHL)
title_short	Secondary findings from whole-exome sequencing data in families with familial combined hyperlipidemia (FCHL)
title_full	Secondary findings from whole-exome sequencing data in families with familial combined hyperlipidemia (FCHL)
title_fullStr	Secondary findings from whole-exome sequencing data in families with familial combined hyperlipidemia (FCHL)
title_full_unstemmed	Secondary findings from whole-exome sequencing data in families with familial combined hyperlipidemia (FCHL)
title_sort	secondary findings from whole-exome sequencing data in families with familial combined hyperlipidemia (fchl)
publisher	SpringerOpen
publishDate	2021
url	https://doaj.org/article/afaf98bd8d0e48ea855a03ff061ae77b
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Secondary findings from whole-exome sequencing data in families with familial combined hyperlipidemia (FCHL)

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